Metabolic Disorders and Newborn Screening

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

The tests and genes on this page are organized into clinical areas. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Clinical Area: Metabolic Newborn Screening and Immunology

up to 100 genes

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

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Genetic testing for 64 genes that are associated with metabolic disorders that are routinely screened by US newborn screening (NBS) programs.

GENES TESTED:

Primary Panel:
ACAD8 ACADM ACADS ACADSB ACADVL ACAT1 ALDH4A1 ARG1 ASL ASS1 AUH BCKDHA BCKDHB BTD CBS CFTR CPS1 CPT1A CPT2 DBT ETFA ETFB ETFDH ETHE1 FAH FTCD G6PD GAA GALE GALK1 GALT GCDH GCH1 GLA HADH HADHA HADHB HLCS HMGCL HSD17B10 IVD MAT1A MCCC1 MCCC2 MLYCD MMAA MMAB MMACHC MMADHC MTRR MUT OAT OTC PAH PCBD1 PCCA PCCB PRODH PTS QDPR SLC22A5 SLC25A13 SLC25A20 TAZ

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.

Add-on Preliminary-evidence Gene for Metabolic Disorders Newborn Screening Confirmation:
DECR1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. DECR1, a gene that has preliminary evidence of association with 2,4-Dienoyl-CoA reductase deficiency can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Generalized Leukodystrophies Genes:
ARSA ASPA GALC HEXA HEXB

Clinicians can choose to include 5 disorders (metachromatic leukodystrophy, Canavan disease, Krabbe disease, Tay Sachs disease, and Sandhoff disease) that can cause leukodystrophy at an early age as part of this panel. Krabbe disease is currently included in newborn screening in the state of New York; however, since the implementation of this disorder, its inclusion has remained controversial. These genes can be added at no additional charge.

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

Add-on Congenital Disorders of Glycosylation Genes:
ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ATP6V0A2 B3GLCT CHST14 COG1 COG4 COG5 COG6 COG7 COG8 DOLK DPAGT1 DPM1 DPM2 DPM3 MGAT2 MOGS MPDU1 MPI NGLY1 PGM1 PMM2 RFT1 SLC35A1 SLC35A2 SLC35C1 SRD5A3 TMEM165

Clinicians can choose to include genes associated with congenital disorders of glycosylation. Many of these disorders can present in the newborn period with findings such as hypotonia, seizures, brain imaging abnormalities, hepatopathy, coagulopathy, microcephaly, as well as others. These genes may be included at no extra charge.

Add-on Creatine Transporter Deficiency Gene:
SLC6A8

For some disorders, newborn screening is not currently possible due to lack of a specific analyte that is cost-effective for NBS labs. With molecular testing, however, this is no longer a barrier. Clinicians may choose to include this condition or any of the conditions below that either have treatment or may be difficult to diagnose. The genes below can be included at no additional charge.

SLC6A8 is associated with creatine transporter deficiency.

Add-on Glucose Transporter Type 1 Deficiency Gene:
SLC2A1

SLC2A1 is the gene associated with GLUT1 deficiency.

Add-on Glycine Encephalopathy Genes:
AMT GCSH GLDC

AMT, GCSH, and GLDC are associated with glycine encephalopathy.

Add-on Mucopolysaccharidosis Type II Gene:
IDS

IDS is the gene associated with MPS-II.

Add-on Niemann-Pick Type C Genes:
NPC1 NPC2

NPC1 and NPC2 are the genes associated with Niemann-Pick type C.

Add-on Pyridoxal 5'-phosphate-dependent Epilepsy Gene:
PNPO

PNPO is the gene associated with pyridoxal 5’-phosphate-dependent epilepsy.

Add-on Pyridoxine-responsive Epilepsy Gene:
ALDH7A1

ALDH7A1 is associated with pyridoxine-responsive epilepsy.

Add-on Smith-Lemli-Opitz Syndrome Gene:
DHCR7

DHCR7 is the gene associated with Smith-Lemli-Opitz syndrome.

up to 19 genes

Invitae Severe Combined Immunodeficiency Panel

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Genetic testing for up to 19 genes that are associated with severe combined immunodeficiency (SCID).

GENES TESTED:

Primary Panel:
ADA AK2 CD247 CD3D CD3E DCLRE1C IL2RG IL7R JAK3 LIG4 NHEJ1 PNP PTPRC RAC2 RAG1 RAG2 RMRP ZAP70

Add-on CHARGE Syndrome Gene:
CHD7

Patients with CHARGE syndrome can have variable immune-system presentations, including mild to severe T-cell lymphopenia, abnormal T-cell function, and hypogammaglobulinemia (PMID: 26235889 ). Recent data from newborn screening laboratories have shown that some CHARGE patients can be identified through SCID newborn screening (PMID: 25138334 ). Given the immunological presentation overlap between SCID and CHARGE syndrome and the difficulty in differentiating between SCID and CHARGE syndrome on newborn screening assays, analyzing the CHD7 gene (associated with CHARGE syndrome) may be appropriate. This gene can be included at no additional charge.

1 gene

Invitae Low C0 Test

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Genetic testing for the SLC22A5 gene, which is associated with primary carnitine deficiency and low C0 on newborn screening (NBS) and carnitine analysis.

GENES TESTED:

SLC22A5

1 gene

Invitae Elevated C0/(C16+C18) Test

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Genetic testing for carnitine palmitoyltransferase 1 deficiency, a disorder of long-chain fatty acid oxidation that is associated with elevated C0/(C16+C18) acylcarnitine ratio on NBS or acylcarnitine analysis.

GENES TESTED:

CPT1A

9 genes

Invitae Elevated C3 Panel

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Genetic testing for nine genes that are associated with elevated C3 on newborn screening (NBS).

GENES TESTED:

BTD HLCS MMAA MMAB MMACHC MMADHC MUT PCCA PCCB

1 gene

Invitae Elevated C3-DC Test

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Genetic testing for the MLYCD gene, which is associated with malonic aciduria and elevated C3-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

MLYCD

3 genes

Invitae Elevated C4 Panel

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Genetic testing for up to three genes that are associated with elevated C4 on newborn screening (NBS) or plasma acylcarnitines.

GENES TESTED:

ACAD8 ACADS ETHE1

1 gene

Invitae Elevated C4-OH Test

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Genetic testing for the HADH gene, which is associated with medium/short chain acyl-coA dehydrogenase deficiency and elevated C4-OH on acylcarnitine analysis.

GENES TESTED:

HADH

4 genes

Invitae Elevated C4 and C5 Panel

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Genetic testing for up to four genes that are associated with elevated C4 & C5 on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ETFA ETFB ETFDH ETHE1

2 genes

Invitae Elevated C5 Panel

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Genetic testing for ACADSB and IVD, which are associated with elevated C5 on newborn screening (NBS) or plasma acylcarnitine analysis.

GENES TESTED:

ACADSB IVD

1 gene

Invitae Elevated C5-DC Test

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Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

GCDH

9 genes

Invitae Elevated C5-OH Panel

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Genetic testing for up to nine genes that are associated with elevated C5-OH on newborn screening (NBS) or acylcarnitines.

GENES TESTED:

ACAT1 AUH BTD HLCS HMGCL HSD17B10 MCCC1 MCCC2 TAZ

1 gene

Invitae Elevated C6, C8 and C10 Test

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Genetic testing for the ACADM gene, which is associated with elevated C6, C8, and C10 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADM

1 gene

Invitae Elevated C14 and C14:1 Test

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Genetic testing for the ACADVL gene, which is associated with elevated C14, C14:1 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADVL

2 genes

Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel

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Genetic testing for the HADHA and HADHB genes, which are associated with elevated C16-OH, C16:1-OH, C18-OH, and C18:1-OH acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

HADHA HADHB

2 genes

Invitae Elevated C16, C16:1, C18, and C18:1 Panel

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Genetic testing for CPT2 and SLC25A20, which are associated with elevated C16, C16:1, C18, and C18:1 on newborn screening (NBS) or plasma acylcarnitines.

GENES TESTED:

CPT2 SLC25A20

1 gene

Invitae Elevated Arginine Test

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Genetic testing for the ARG1 gene, which is associated with arginase deficiency—a cause of elevated arginine on newborn screening (NBS) or plasma amino acids.

GENES TESTED:

ARG1

3 genes

Invitae Elevated Citrulline Panel

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Genetic testing for up to three genes that are associated with elevated citrulline on newborn screening (NBS) or plasma amino acids.

GENES TESTED:

ASL ASS1 SLC25A13

3 genes

Invitae Elevated Leucine Panel

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Genetic testing for three genes that are associated with elevated leucine and maple syrup urine disease (MSUD) on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

BCKDHA BCKDHB DBT

5 genes

Invitae Elevated Phenylalanine Panel

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Genetic testing for five genes associated with elevated phenylalanine on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

GCH1 PAH PCBD1 PTS QDPR

2 genes

Invitae Elevated Proline Panel

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Genetic testing for ALDH4A1 and PRODH, two genes that are associated with elevated levels of proline on newborn screening (NBS) or plasma amino-acid analysis.

GENES TESTED:

ALDH4A1 PRODH

1 gene

Invitae Elevated Succinylacetone Test

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Genetic testing for the FAH gene, which is associated with elevated succinylacetone, the biochemical hallmark for tyrosinemia type I resulting from FAH deficiency.

GENES TESTED:

FAH

3 genes

Invitae Glycine Encephalopathy Panel

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Genetic testing for three genes that are associated with glycine encephalopathy, which can cause encephalopathy, hypotonia, seizures, and elevated plasma and CSF glycine levels.

GENES TESTED:

AMT GCSH GLDC

4 genes

Invitae Homocystinuria Panel

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Genetic testing for four genes that are associated with elevated plasma homocysteine levels, including classic homocystinuria, combined homocystinuria and methylmalonic acidemia, and cobalamin defects.

GENES TESTED:

CBS MMACHC MMADHC MTRR

MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.

5 genes

Invitae Hyperphenylalaninemia Panel

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Genetic testing for five genes that are associated with hyperphenylalaninemia, which causes elevated plasma phenylalanine levels or abnormal urine pterins, including phenylketonuria and tetrahydrobiopterin defects.

GENES TESTED:

GCH1 PAH PCBD1 PTS QDPR

2 genes

Invitae Hyperprolinemia Panel

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Genetic testing for two genes, ALDH4A1 and PRODH, that are associated with elevated levels of proline and hyperprolinemia.

GENES TESTED:

ALDH4A1 PRODH

3 genes

Invitae Maple Syrup Urine Disease Panel

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Genetic testing for three genes that are associated with elevated leucine and maple syrup urine disease (MSUD) upon newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

BCKDHA BCKDHB DBT

3 genes

Invitae Galactosemia Panel

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Genetic testing for three genes that are associated with galactosemia, which can cause hepatomegaly, jaundice, neonatal sepsis, cataracts, and elevated galactose metabolites.

GENES TESTED:

GALE GALK1 GALT

GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.

1 gene

Invitae Glucose-6-Phosphate Dehydrogenase Deficiency Test

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Genetic testing for the G6PD gene, which is associated with glucose-6-phosphate dehydrogenase deficiency and low levels of the G6PD enzyme.

GENES TESTED:

G6PD

1 gene

Invitae Glucose Transporter Type 1 Deficiency Syndrome Test

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Genetic testing for the SLC2A1 gene, whose pathogenic variants cause glucose transporter type 1 deficiency syndrome (GLUT1DS).

GENES TESTED:

SLC2A1

up to 51 genes

Invitae Congenital Disorders of Glycosylation Panel

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Genetic testing for up to 54 genes that are associated with congenital disorders of glycosylation (CDGs).

GENES TESTED:

Primary Panel:
ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ATP6V0A2 B3GLCT CHST14 COG1 COG4 COG5 COG6 COG7 COG8 DOLK DPAGT1 DPM1 DPM2 DPM3 MGAT2 MOGS MPDU1 MPI NGLY1 PGM1 PMM2 RFT1 SLC35A1 SLC35A2 SLC35C1 SRD5A3 TMEM165

Add-on Preliminary-evidence Genes for Congenital Disorders of Glycosylation:
DDOST STT3A STT3B

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Disorders of O-mannosylation Genes:
B3GALNT2 B4GAT1 FKRP FKTN GFPT1 GMPPB GNE ISPD LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5

Disorders of o-mannosylation have defects in o-mannosyl glycan synthesis, mainly of alpha-dystroglycan. These disorders may have overlapping phenotypes with CDGs, including muscular phenotypes, brain malformations, and eye abnormalities. These genes can be included at no additional charge.

FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.

1 gene

Invitae Cystic Fibrosis Newborn Screening Confirmation Test

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Genetic testing for the gene CFTR, this test is intended for any individual with an elevated immunoreactive trypsinogen (IRT) on newborn screening (NBS), a positive sweat chloride test (sweat test), or a suspected diagnosis of a cystic fibrosis based on clinical presentation.

GENES TESTED:

CFTR

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

up to 17 genes

Invitae Fatty Acid Oxidation Defects Panel

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Genetic testing for up to 17 genes that are associated with fatty acid oxidation defects (FAODs)—disorders in the fatty acid oxidation pathway.

GENES TESTED:

Primary Panel:
ACADM ACADS ACADSB ACADVL CPT1A CPT2 ETFA ETFB ETFDH HADH HADHA HADHB HMGCL MLYCD SLC22A5 SLC25A20

Add-on Preliminary-evidence Gene for Fatty Acid Oxidation Defects:
DECR1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Medium Chain Acyl-CoA Dehydrogenase Deficiency Test

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Genetic testing for the ACADM gene, which is associated with Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency and elevated C6, C8, and C10 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADM

3 genes

Invitae Multiple Acyl-coA Dehydrogenase Deficiency Panel

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Genetic testing for three genes that are associated with multiple acyl-CoA dehydrogenase (MAD) deficiency, which can cause metabolic acidosis, hypotonia, seizures, hypoglycemia, hyperammonemia, and a sweaty-sock odor.

GENES TESTED:

ETFA ETFB ETFDH

1 gene

Invitae Very Long Chain Acyl-CoA Dehydrogenase Deficiency Test

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Genetic testing for the ACADVL gene, which is associated with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency and elevated C14, C14:1 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADVL

1 gene

Invitae Fabry Disease Test

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Genetic testing for the gene GLA which causes Fabry disease, featuring renal, cardiovascular, and cardiac disease, skin or ocular symptoms, and peripheral pain.

GENES TESTED:

GLA

GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.

1 gene

Invitae Krabbe Disease Test

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Genetic testing for the GALC gene, which is associated with Krabbe disease, a result of galactocerebrosidase deficiency.

GENES TESTED:

GALC

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

up to 5 genes

Invitae Metachromatic Leukodystrophy Test

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Genetic testing of the ARSA gene, which is the most common cause of metachromatic leukodystrophy (MLD, also referred to as "arylsulfatase A deficiency").

GENES TESTED:

Primary Panel:
ARSA

Add-on Generalized Leukodystrophies Genes:
ASPA GALC HEXA HEXB

Phenotypic features of MLD can overlap with generalized leukodystrophies. Given the significant phenotypic overlap between MLD, Canavan disease, Krabbe disease, Tay Sachs, and Sandhoff disease, analyzing the genes associated with these disorders may be appropriate. These genes can be included at no additional charge.

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

1 gene

Invitae Mucopolysaccharidosis Type II Test

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Genetic testing for the IDS gene, which is associated with mucopolysaccharidosis type II (MPSII), a progressive condition with multi-organ involvement.

GENES TESTED:

IDS

2 genes

Invitae Niemann-Pick Type C Panel

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Genetic testing for the two known genes that are associated with Niemann-Pick, type C (NPC), a neurovisceral lysosomal storage disease of impaired lipid trafficking.

GENES TESTED:

NPC1 NPC2

up to 2 genes

Invitae Pompe Disease Test

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Genetic testing for the gene GAA, which is associated with Pompe disease (also called glycogen storage disease, type II [GSD II]).

GENES TESTED:

Primary Panel:
GAA

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.

Add-on Danon Disease Gene:
LAMP2

There is significant clinical overlap between Pompe disease and Danon disease, and differentiating between these disorders by clinical symptoms alone can be difficult, especially early in the patient’s life. If clinically appropriate, this gene can be added at no additional charge.

Add-on Primary Carnitine Deficiency Gene:
SLC22A5

Primary carnitine deficiency can present from infancy through adulthood. Affected individuals tend to have muscle weakness in the extremities, shoulders, and hips. The heart muscle may also be weak and in children can become significantly enlarged. Depending on the patient’s clinical presentation, including this gene may be appropriate. This gene can be added for no additional charge.

up to 2 genes

Invitae Sandhoff Disease Test

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Genetic testing for the HEXB gene, which is associated with Sandhoff disease.

GENES TESTED:

Primary Panel:
HEXB

Add-on Tay-Sachs Disease Gene:
HEXA

Given the significant clinical overlap between Sandhoff disease and Tay Sachs disease, analyzing HEXA, the gene associated with Tay Sachs, may be appropriate. The HEXA gene can be included at no additional charge.

up to 2 genes

Invitae Tay-Sachs Disease Test

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Genetic testing for HEXA, the only gene known to be associated with Tay-Sachs disease (TSD).

GENES TESTED:

Primary Panel:
HEXA

Add-on Sandhoff Disease Gene:
HEXB

Given the significant clinical overlap between Sandhoff disease and Tay Sachs disease, analyzing HEXB, the gene associated with Sandhoff, may be appropriate. The HEXB gene can be included at no additional charge.

1 gene

Invitae ATP7A-Related Disorders

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Genetic testing for ATP7A, the only known gene associated with Menkes syndrome, occipital horn syndrome, and ATP7A-related distal motor neuropathy.

GENES TESTED:

ATP7A

1 gene

Invitae Wilson Disease Test

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Genetic testing for the ATP7B gene, which is associated Wilson disease, a disorder characterized by liver disease, neurologic (movement) disorders, psychiatric symptoms, hemolytic anemia, low serum copper and ceruloplasmin, and high urine copper excretion.

GENES TESTED:

ATP7B

31 genes

Invitae Organic Acidemias Panel

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Genetic testing for 31 genes that are associated with organic acidemia.

GENES TESTED:

ACAD8 ACADSB ACAT1 ASPA AUH BCKDHA BCKDHB BTD DBT ETFA ETFB ETFDH ETHE1 FTCD GCDH GSS HLCS HMGCL HSD17B10 IVD MCCC1 MCCC2 MLYCD MMAA MMAB MMACHC MMADHC MUT PCCA PCCB TAZ

2 genes

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel

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Genetic testing for two genes that are associated with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency.

GENES TESTED:

MCCC1 MCCC2

1 gene

Invitae Barth Syndrome Test

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Genetic testing for the TAZ gene, pathogenic variants in which cause Barth syndrome.

GENES TESTED:

TAZ

1 gene

Invitae Biotinidase Deficiency Test

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Genetic testing for the BTD gene, which is associated with biotinidase deficiency—a condition that is characterized seizures, hypotonia, alopecia, and eczema.

GENES TESTED:

BTD

1 gene

Invitae Canavan Disease Test

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Genetic testing for the ASPA gene, which is associated with Canavan disease, a condition that is characterized by leukodystrophy, macrocephaly, developmental delay, and hypotonia.

GENES TESTED:

ASPA

1 gene

Invitae Glutaric Acidemia Type I Test

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Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I (GA1) and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

GCDH

5 genes

Invitae Methylmalonic Acidemia Panel

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Genetic testing for five genes that are associated with methylmalonic acidemia.

GENES TESTED:

MMAA MMAB MMACHC MMADHC MUT

3 genes

Invitae Multiple Acyl-coA Dehydrogenase Deficiency Panel

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Genetic testing for three genes that are associated with multiple acyl-CoA dehydrogenase (MAD) deficiency, which can cause metabolic acidosis, hypotonia, seizures, hypoglycemia, hyperammonemia, and a sweaty-sock odor.

GENES TESTED:

ETFA ETFB ETFDH

2 genes

Invitae Multiple Carboxylase Deficiency Panel

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Genetic testing for the BTD and HLCS genes associated with multiple carboxylase deficiency, which can cause metabolic decompensation, metabolic acidosis, seizures, alopecia, and skin findings.

GENES TESTED:

BTD HLCS

up to 7 genes

Invitae Propionic Acidemia Panel

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Genetic testing for two genes that are associated with propionic acidemia (PPA), an organic acidemia that causes metabolic acidosis with encephalopathy and often results in neurologic impairment and possible cardiomyopathy.

GENES TESTED:

Primary Panel:
PCCA PCCB

Add-on Methylmalonic Acidemia Genes:
MMAA MMAB MMACHC MMADHC MUT

Methylmalonic acidemia (MMA) is caused by an enzyme or cofactor-related defect in the propionate metabolic pathway, but downstream of propionyl-CoA carboxylase. Patients with severe MMA can get a backlog of propionate metabolism intermediates and can have similar findings on biochemical analyses as well as overlapping clinical features. Analyzing the genes associated with MMA may also be appropriate. These genes can be included at no additional charge.

Add-on Multiple Carboxylase Deficiency Genes:
BTD HLCS

Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme. Consequently, individuals with biotin metabolism disorders can develop impaired PCC activity, causing elevated PPA metabolites on biochemical analysis. Analyzing the genes associated with multiple carboxylase deficiency may also be appropriate. These genes can be included at no additional charge.

10 genes

Invitae Urea Cycle Disorders Panel

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Genetic testing for ten genes that encode the enzymes and transporter proteins involved in the biochemical reactions of urea cycle.

GENES TESTED:

ALDH18A1 ARG1 ASL ASS1 CPS1 HMGCL OAT OTC SLC25A13 SLC25A15

OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.

Clinical Area: Pediatric and Rare Disease

3 genes

Invitae Cerebral Creatine Deficiency Panel

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Genetic testing for three genes that are associated with creatine biosynthesis or transport.

GENES TESTED:

GAMT GATM SLC6A8

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Metabolic Newborn Screening and Immunology
  • Clinical Area: Pediatric and Rare Disease

Gene
A

The ACAD8 gene is associated with autosomal recessive isobutyryl-CoA dehydrogenase deficiency (MedGen UID: 370754).

The ACADM gene is associated with medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

The ACADS gene is associated with Short chain Acyl CoA dehydrogenase deficiency (MedGen UID: 90998).

The ACADSB gene is associated with autosomal recessive Short/branched chain AcylCoA dehydrogenase deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) (MedGen UID: 355324).

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).

Synonym(s): ACAT

The ACAT1 gene is associated with autosomal recessive Beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).

ADA

The ADA gene is associated with autosomal recessive severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (MedGen UID: 354935).

AK2

The AK2 gene is associated with autosomal recessive reticular dysgenesis, a rare form of severe combined immunodeficiency (SCID) (MedGen UID: 124417).

Synonym(s): GSAS; PYCS

The ALDH18A1 gene is associated with autosomal dominant cutis laxa (MedGen UID: 851795) and spastic paraplegia (MedGen UID: 322007) and autosomal recessive cutis laxa (PMID: 25077174) and spastic paraplegia (MedGen UID: 376521).

Synonym(s): ALDH4

The ALDH4A1 gene is associated with autosomal recessive hyperprolinemia type II (MedGen UID: 78688).

Synonym(s): ATQ1; EPD; PDE

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

Synonym(s): HMAT1; HMT-1

ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID: 332969).

Synonym(s): GT8

ALG11 is associated with autosomal recessive ALG11-congenital disorder of glycosylation (CDG-Ip) (MedGen UID: 462263).

Synonym(s): CDG1G; ECM39; hALG12; PP14673

ALG12 is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID: 375947).

Synonym(s): CDG1S; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W; EIEE36

The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).

Synonym(s): CDGIi; FLJ14511; hALPG2; NET38

The ALG2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) and autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 831266).

ALG3 is associated with autosomal recessive ALG3-congenital disorder of glycosylation (CDG-Id) (MedGen UID: 322026).

ALG6 is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID: 400469).

Synonym(s): MGC2840

ALG8 is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID: 374956).

Synonym(s): DIBD1

ALG9 is associated with autosomal recessive ALG9-congenital disorder of glycosylation (CDG-IL) (MedGen UID: 324794).

AMT

The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).

The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MedGen UID: 6071).

ASL

The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).

The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).

Synonym(s): ASS

The ASS1 gene is associated with autosomal recessive citrullinemia type 1 (MedGen UID: 104491).

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID: 324794).

Synonym(s): MNK

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

Synonym(s): WND

The ATP7B gene is associated with autosmal recessive Wilson disease (MedGen UID: 42426).

AUH

The AUH gene is associated with 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).

B

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

Synonym(s): B3GTL

The B3GLCT gene is associated with autosomal recessive forms of Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).

Synonym(s): B3GNT1; B3GNT6

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

Synonym(s): OVD1A

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

BTD

The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).

C
CBS

The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).

Synonym(s): CD3Z

The CD247 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 346666).

Synonym(s): T3D

The CD3D gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 816477).

The CD3E gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 816457).

Synonym(s): ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1

The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): D4ST1

CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (EDSMC1) (MedGen UID: 356497).

Synonym(s): LDLB; CDG2G; KIAA1381

COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID: 409970).

Synonym(s): COD1; CDG2J

COG4 is associated with autosomal recessive COG4-congenital disorder of glycosylation (CDG-IIj) (MedGen UID: 462086).

Synonym(s): CDG2I; GTC90; GOLTC1

COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID: 462226).

Synonym(s): COD2; SHNS; CDG2L; KIAA1134

COG6 is associated with autosomal recessive COG6-congenital disorder of glycosylation (CDG-IIL) (MedGen UID: 766144, 815490).

Synonym(s): CDG2E

COG7 is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 332451).

Synonym(s): DOR1; CDG2H

COG8 is associated with autosomal recessive COG8-congenital disorder of glycosylation (CDG-IIh) (MedGen UID: 409971).

The CPS1 gene is associated with autosomal recessive carbamoylphosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).

The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I deficiency (MedGen UID: 316820).

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).

D
DBT

The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

Synonym(s): SCIDA

The DCLRE1C gene is associated with autosomal recessive severe combined immunodeficiency (SCID) with sensitivity to ionizing radiation (MedGen UID: 355454).

Synonym(s): OST; OST48; Oligosaccharyltransferase 48KD; KIAA0115; WBP1; AGER1

The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (MedGen UID: 482714).

Synonym(s): DECR

The DECR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-Dienoyl-CoA reductase 1 deficiency.

Synonym(s): SLOS

The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).

Synonym(s): TMEM15

DOLK is associated with autosomal recessive DOLK-congenital disorder of glycosylation (CDG-Im) (MedGen UID: 332072).

Synonym(s): DPAGT1; DPAGT

The DPAGT1 gene is associated with autosomal recessive DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 334113) and congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559).

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

E

The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

Synonym(s): MADD; ETFQO; ETF-QO; ETF dehydrogenase; ETF-ubiquinone oxidoreductase

The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

Synonym(s): HSCO; YF13H12

ETHE1 is associated with autosomal recessive ethylmalonic encephalopathy (MedGen UID: 355966).

F
FAH

The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).

Synonym(s): MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID:461763), type B5 (MDDGB5) (MedGen UID:335764), and type C5 (MDDGC5) (MedGen UID:339580), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

Synonym(s): FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).

The FTCD gene is associated with autosomal recessive glutamate formiminotransferase deficiency (MedGen UID: 82823).

G

The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 40355).

GAA

The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).

The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).

The GALE gene is associated with autosomal recessive epimerase deficiency galactosemia (MedGen UID: 199598).

Synonym(s): GK1; GALK; HEL-S-19

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

The GALT gene is associated with autosomal recessive classic galactosemia (MedGen UID: 344772).

Synonym(s): PIG2; TP53I2; CCDS2; HEL-S-20

The GAMT gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 154356).

Synonym(s): AT; AGAT; Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase; L-Arginine:Glycine Amidinotransferase; Glycine Amidinotransferase; Mitochondrial; Transamidinase; CCDS3

The GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 436367).

The GCDH gene is associated with autosomal recessive glutaric acidemia type 1 (GA1) (MedGen UID: 124337).

Synonym(s): GCH; DYT5; DYT14

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). It is also associated with autosomal recessive GTP cyclohydrolase deficiency (MedGen UID: 75683).

Synonym(s): GCE; NKH

The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): GPFT

The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).

GLA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

Synonym(s): GCE; GCSP; HYGN1

The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNE
Synonym(s): IBM2

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

GSS

The GSS gene is associated with autosomal recessive glutathione synthetase deficiency (MedGen UID: 97988).

H
Synonym(s): HADHSC

The HADH gene is associated with autosomal recessive 3-hydroxyacyl-CoA dehydrogenase deficiency (MedGen UID: 266222).

The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 442134) and autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).

The HEXA gene is associated with autosomal recessive Tay-Sachs disease (MedGen UID: 11713).

The HEXB gene is associated with autosomal recessive Sandhoff disease (MedGen UID: 11313).

The HLCS gene is associated with autosomal recessive holocarboxylase synthetase deficiency (MedGen UID: 120653).

Synonym(s): 3-Hydroxy-3-Methylglutaryl-CoA Lyase; HL; 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase; HMG-CoA Lyase; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA Lyase; Mitochondrial; Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase

The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (MedGen UID: 78692 ).

Synonym(s): HADH2; MRXS10

The HSD17B10 gene is associated with X-linked dominant 2-methyl-3-hydroxybutyric acidemia (MedGen UID: 336957).

I
IDS
Synonym(s): SIDS

The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS-II) (MedGen UID: 7734) also known as Hunter syndrome.

Synonym(s): CIDX; IMD4; SCIDX1

The IL2RG gene is associated with X-linked recessive severe combined immunodeficiency (SCID) (MedGen UID: 220906).

The IL7R gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 373235).

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).

IVD

The IVD gene is associated with autosomal recessive isovaleric acidemia (MedGen UID: 82822).

J

The JAK3 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 331474).

K
L

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

Synonym(s): LARGE; MDC1D; MDDGA6; MDDGB6

The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).

The LIG4 gene is associated with autosomal recessive ligase IV (LIG4) syndrome (MedGen UID: 339855).

M

The MAT1A gene is associated with autosomal recessive hypermethioninemia (MedGen UID: 75700).

The MCCC1 gene is associated with autosomal recessive 3 methylcrotonyl-CoA carboxylase deficiency (MedGen UID: 468532).

The MCCC2 gene is associated with autosomal recessive 3 methylcrotonyl-CoA carboxylase deficiency (MedGen UID: 347898).

MGAT2 is associated with autosomal recessive MGAT2-congenital disorder of glycosylation (CDG-IIa) (MedGen UID: 87610).

The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).

The MMAA gene is associated with autosomal recessive cobalamin A type methylmalonic aciduria (MedGen UID: 344422).

The MMAB gene is associated with autosomal recessive cobalamin B type methylmalonic aciduria (MedGen UID: 344420).

The MMACHC gene is associated with autosomal recessive methylmalonic aciduria and homocystinuria due to cobalamin C deficiency (MedGen UID: 341256).

Synonym(s): C2orf25

The MMADHC gene is associated with autosomal recessive cobalamin D deficiency (MedGen UID: 341253)

MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID: 342954).

MPDU1 is associated with autosomal recessive MPDU1-congenital disorder of glycosylation (CDG-If) (MedGen UID: 322968).

MPI

MPI is associated with autosomal recessive MPI-congenital disorder of glycosylation (CDG-Ib) (MedGen UID: 400692).

The MTRR gene is associated with autosomal recessive cobalamin E homocystinuria (MedGen UID: 344640).

MUT

The MUT gene is associated with autosomal recessive methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424).

N
Synonym(s): CDDG; CDG1V; PNG1; PNGase

NGLY1 is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).

The NHEJ1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation (MedGen UID: 369590).

The NPC1 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 465922).

The NPC2 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 335942).

O
OAT

The OAT gene is associated with autosomal recessive gyrate atrophy (MedGen UID: 109343).

OTC

The OTC gene is associated with X-linked ornithine transcarbamylase (OTC) deficiency (MedGen UID: 75692).

P
PAH

The PAH gene is associated with autosomal recessive hyperphenylalaninemia (HPA), which includes the spectrum of phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA) and variant PKU (MedGen UID: 19244).

Synonym(s): DCOH; PCBD

The PCBD1 gene is associated with tetrahydrobiopterin-deficient hyperphenylalaninemia due to pterin-4-α-carbinolamine dehydratase deficiency (MedGen UID: 440773).

The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 75694).

The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 75694).

PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID: 766970).

Synonym(s): CDG1

PMM2 is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID: 138111).

PNP
Synonym(s): NP

The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).

Synonym(s): HEL-S-302; PDXPO

The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).

Synonym(s): MEB

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767).

Synonym(s): C3orf39; GTDC2

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).

Synonym(s): SGK196

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).

Synonym(s): RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1

The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).

Synonym(s): LGMD2N; MDDGA2; MDDGB2; MDDGC2

The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).

The PRODH gene is associated with autosomal recessive hyperprolinemia type 1 (MedGen UID: 120645).

Synonym(s): CD45

The PTPRC gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 373235).

PTS

The PTS gene is associated with tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (MedGen UID: 209234).

Q

The QDPR gene is associated with tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase deficiency (MedGen UID: 75682).

R

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920) and autosomal recessive common variable immunodeficiency.

The RAG1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG1 gene has preliminary evidence supporting a correlation with autosomal recessive destructive midline granulomatous disease (MedGen UID: 435945).

The RAG2 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG2 gene has preliminary evidence supporting a correlation with autosomal recessive combined cellular and humoral immunodeficiency with granulomatous disease (MedGen UID: 435945).

RFT1 is associated with autosomal recessive RFT1-congenital disorder of glycosylation (CDG-In) (MedGen UID: 383145).

Synonym(s): CHH

The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders (MedGen UID: 375972).

S
Synonym(s): CDSP

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

Synonym(s): CTLN2

The SLC25A13 gene is associated with citrin deficiency (MedGen UID: 372684).

Synonym(s): HHH; ORNT1

The SLC25A15 gene is associated with autosomal recessive hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (MedGen UID: 82815).

Synonym(s): CACT

The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase deficiency (MedGen UID: 91000).

Synonym(s): CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN

The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).

SLC35A1 is associated with autosomal recessive SLC35A1-congenital disorder of glycosylation (CDG-IIf) (MedGen UID: 370234).

Synonym(s): CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL

The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).

SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID: 162913).

Synonym(s): Creatinine transporter; CT1; CRTR; CRT; Solute Carrier Family 6 Member 8; Sodium- And Chloride-Dependent Creatine Transporter 1; Creatine Transporter SLC6A8; CCDS1; CTR5

The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).

SRD5A3 is associated with autosomal recessive SRD5A3-congenital disorder of glycosylation (CDG-Iq) (MedGen UID: 461541).

Synonym(s): ITM1

The STT3A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive STT3A-congenital disorder of glycosylation (CDG-Iw).

The STT3B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive STT3B-congenital disorder of glycosylation (CDG-Ix).

T
TAZ
Synonym(s): CMD3A; EFE2; EFE

The TAZ gene is associated with X-linked 3-methylglutaconic aciduria, also known as Barth syndrome (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

TMEM165 is associated with autosomal recessive TMEM165-congenital disorder of glycosylation (CDG-IIk) (MedGen UID: 472402).

The TMEM5 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

U
V
W
X
Y
Z
Synonym(s): SRK

The ZAP70 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 376544).