Invitae Comprehensive Carrier Screen without X-linked Disorders
Test description
The Invitae Comprehensive Carrier Screen without X-linked Disorders is appropriate for those of all ethnicities who want an expanded assessment of their risk of having an affected child and do not want to be screened for X-linked disorders.
This panel includes:
- all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
- an extended list of disorders recommended by national Jewish societies
- disorders that may have a severe presentation
- a selection of disorders found on the newborn screen
Please see the Tested table for a complete list of disorders tested.
Carrier frequency, detection rates and residual risks are available here.
You can customize this panel by clicking genes to remove them or by scrolling down to select add-on genes with variable presentation.
Genes tested
Primary panel
ABCB11 ABCC8 ACAD9 ACADM ACADVL ACAT1 ACOX1 ACSF3 ADA ADAMTS2 ADGRG1 AGA AGL AGPS AGXT AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT AQP2 ARG1 ARSA ARSB ASL ASNS ASPA ASS1 ATM ATP6V1B1 ATP7B BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BSND CAPN3 CBS CDH23 CEP290 CERKL CFTR CHRNE CIITA CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL27A1 COL4A3 COL4A4 COL7A1 CPS1 CPT1A CPT2 CRB1 CTNS CTSK CYBA CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP27A1 DBT DCLRE1C DHCR7 DHDDS DLD DNAH5 DNAI1 DNAI2 DYSF EIF2B5 ELP1 ERCC6 ERCC8 ESCO2 ETFA ETFDH ETHE1 EVC EVC2 EYS FAH FAM161A FANCA FANCC FANCG FH FKRP FKTN G6PC GAA GALC GALK1 GALT GAMT GBA GBE1 GCDH GFM1 GJB2 GLB1 GLDC GLE1 GNE GNPTAB GNPTG GNS GRHPR HADHA HAX1 HBA1, HBA2 HBB HEXA HEXB HGSNAT HJV HLCS HMGCL HOGA1 HPS1 HPS3 HSD17B4 HSD3B2 HYAL1 HYLS1 IDUA IVD KCNJ11 LAMA2 LAMA3 LAMB3 LAMC2 LCA5 LDLR LDLRAP1 LHX3 LIFR LIPA LOXHD1 LPL LRPPRC MAN2B1 MCOLN1 MED17 MESP2 MFSD8 MKS1 MLC1 MMAA MMAB MMACHC MMADHC MPI MPL MPV17 MTHFR MTRR MTTP MUT MYO7A NAGLU NAGS NBN NDRG1 NDUFAF5 NDUFS6 NEB NPC1 NPC2 NPHS1 NPHS2 NR2E3 NTRK1 OAT OPA3 PAH PC PCCA PCCB PCDH15 PDHB PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PFKM PHGDH PKHD1 PMM2 POMGNT1 PPT1 PROP1 PSAP PTS PUS1 PYGM RAB23 RAG2 RAPSN RARS2 RDH12 RMRP RPE65 RPGRIP1L RTEL1 SACS SAMHD1 SEPSECS SGCA SGCB SGCG SGSH SLC12A3 SLC12A6 SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SLC39A4 SLC4A11 SLC7A7 SMARCAL1 SMN1 SMPD1 STAR SUMF1 TAT TCIRG1 TECPR2 TFR2 TGM1 TH TMEM216 TPP1 TRMU TSFM TTPA TYMP USH1C USH2A VPS13A VPS13B VPS45 VRK1 VSX2 WNT10A XPA XPC ZFYVE26
Add-on genes with variable presentation
BTD F11 F2 F5 GP1BA GP9 HFE HGD MCCC1 MCCC2 MEFV SERPINA1
These add-on genes are associated with disorders that have variable presentation and therefore may not be appropriate for general population screening, however may be appropriate for certain patients. Check the box to add these genes. If you only want a subset, then click individual genes to remove them. These genes can be included at no additional charge.
- BTD: Biotinidase deficiency
- F11: Factor XI deficiency (Hemophilia C)
- F2: Prothrombin-related thrombophilia
- F5: Factor V Leiden thrombophilia
- GP1BA: Bernard-Soulier syndrome (GP1BA-related)
- GP9: Bernard-Soulier syndrome (GP9-related)
- HFE: Hereditary hemochromatosis (HFE-related)
- HGD: Alkaptonuria
- MCCC1: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)
- MCCC2: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)
- MEFV: Familial mediterranean fever
- SERPINA1: Alpha-1 antitrypsin deficiency
Order test
Primary panel (268 genes)
Customized gene selection (0 included, 0 excluded)
ABCB11 ABCC8 ACAD9 ACADM ACADVL ACAT1 ACOX1 ACSF3 ADA ADAMTS2 ADGRG1 AGA AGL AGPS AGXT AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT AQP2 ARG1 ARSA ARSB ASL ASNS ASPA ASS1 ATM ATP6V1B1 ATP7B BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BSND CAPN3 CBS CDH23 CEP290 CERKL CFTR CHRNE CIITA CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL27A1 COL4A3 COL4A4 COL7A1 CPS1 CPT1A CPT2 CRB1 CTNS CTSK CYBA CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP27A1 DBT DCLRE1C DHCR7 DHDDS DLD DNAH5 DNAI1 DNAI2 DYSF EIF2B5 ELP1 ERCC6 ERCC8 ESCO2 ETFA ETFDH ETHE1 EVC EVC2 EYS FAH FAM161A FANCA FANCC FANCG FH FKRP FKTN G6PC GAA GALC GALK1 GALT GAMT GBA GBE1 GCDH GFM1 GJB2 GLB1 GLDC GLE1 GNE GNPTAB GNPTG GNS GRHPR HADHA HAX1 HBA1, HBA2 HBB HEXA HEXB HGSNAT HJV HLCS HMGCL HOGA1 HPS1 HPS3 HSD17B4 HSD3B2 HYAL1 HYLS1 IDUA IVD KCNJ11 LAMA2 LAMA3 LAMB3 LAMC2 LCA5 LDLR LDLRAP1 LHX3 LIFR LIPA LOXHD1 LPL LRPPRC MAN2B1 MCOLN1 MED17 MESP2 MFSD8 MKS1 MLC1 MMAA MMAB MMACHC MMADHC MPI MPL MPV17 MTHFR MTRR MTTP MUT MYO7A NAGLU NAGS NBN NDRG1 NDUFAF5 NDUFS6 NEB NPC1 NPC2 NPHS1 NPHS2 NR2E3 NTRK1 OAT OPA3 PAH PC PCCA PCCB PCDH15 PDHB PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PFKM PHGDH PKHD1 PMM2 POMGNT1 PPT1 PROP1 PSAP PTS PUS1 PYGM RAB23 RAG2 RAPSN RARS2 RDH12 RMRP RPE65 RPGRIP1L RTEL1 SACS SAMHD1 SEPSECS SGCA SGCB SGCG SGSH SLC12A3 SLC12A6 SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SLC39A4 SLC4A11 SLC7A7 SMARCAL1 SMN1 SMPD1 STAR SUMF1 TAT TCIRG1 TECPR2 TFR2 TGM1 TH TMEM216 TPP1 TRMU TSFM TTPA TYMP USH1C USH2A VPS13A VPS13B VPS45 VRK1 VSX2 WNT10A XPA XPC ZFYVE26
Add-on genes with variable presentation (12 genes)
Customized gene selection (0 included, 0 excluded)
These add-on genes are associated with disorders that have variable presentation and therefore may not be appropriate for general population screening, however may be appropriate for certain patients. Check the box to add these genes. If you only want a subset, then click individual genes to remove them. These genes can be included at no additional charge.
- BTD: Biotinidase deficiency
- F11: Factor XI deficiency (Hemophilia C)
- F2: Prothrombin-related thrombophilia
- F5: Factor V Leiden thrombophilia
- GP1BA: Bernard-Soulier syndrome (GP1BA-related)
- GP9: Bernard-Soulier syndrome (GP9-related)
- HFE: Hereditary hemochromatosis (HFE-related)
- HGD: Alkaptonuria
- MCCC1: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)
- MCCC2: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)
- MEFV: Familial mediterranean fever
- SERPINA1: Alpha-1 antitrypsin deficiency
BTD F11 F2 F5 GP1BA GP9 HFE HGD MCCC1 MCCC2 MEFV SERPINA1
Alternative tests to consider
Other carrier screening options:
Clinical information
Disorders tested
| Disorder | Gene |
|---|---|
| 3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency | HMGCL |
| ABCC8-related disorders | ABCC8 |
| Abetalipoproteinemia | MTTP |
| ACAD9 deficiency | ACAD9 |
| Achromatopsia (CNGB3-related) | CNGB3 |
| Acrodermatitis enteropathica | SLC39A4 |
| Adenosine deaminase deficiency | ADA |
| Aicardi-Goutieres syndrome (SAMHD1-related) | SAMHD1 |
| Aldosterone synthase deficiency | CYP11B2 |
| Alpha-mannosidosis | MAN2B1 |
| Alpha-thalassemia | HBA1/HBA2 |
| Alport Syndrome (COL4A3-related) | COL4A3 |
| Alport Syndrome (COL4A4-related) | COL4A4 |
| Alström syndrome | ALMS1 |
| Andermann syndrome | SLC12A6 |
| Arginase deficiency | ARG1 |
| Argininosuccinic aciduria | ASL |
| Aromatase deficiency | CYP19A1 |
| Asparagine synthetase deficiency | ASNS |
| Aspartylglucosaminuria | AGA |
| Ataxia with vitamin E deficiency | TTPA |
| Ataxia-telangiectasia | ATM |
| Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia | AIRE |
| Autosomal recessive deafness 77 | LOXHD1 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) | SACS |
| Bardet-Biedl syndrome (BBS10-related) | BBS10 |
| Bardet-Biedl syndrome (BBS12-related) | BBS12 |
| Bartter syndrome type 4A | BSND |
| BBS1-related disorders | BBS1 |
| BBS2-related disorders | BBS2 |
| Beta-ketothiolase deficiency | ACAT1 |
| Bloom syndrome | BLM |
| Canavan disease | ASPA |
| Carbamoylphosphate synthetase I deficiency | CPS1 |
| Carnitine palmitoyltransferase I deficiency | CPT1A |
| Carnitine palmitoyltransferase II deficiency | CPT2 |
| Carpenter syndrome (RAB23-related) | RAB23 |
| Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | RMRP |
| Cerebrotendinous xanthomatosis | CYP27A1 |
| CFTR-related disorders (including cystic fibrosis) | CFTR |
| Charcot-Marie-Tooth disease (NDRG1-related) | NDRG1 |
| Chorea-acanthocytosis | VPS13A |
| Chronic granulomatous disease (CYBA-related) | CYBA |
| Citrin deficiency | SLC25A13 |
| Citrullinemia type 1 | ASS1 |
| Cockayne syndrome type A | ERCC8 |
| Cockayne syndrome type B | ERCC6 |
| Cohen syndrome | VPS13B |
| Combined malonic and methylmalonic aciduria (ACSF3-related) | ACSF3 |
| Combined oxidative phosphorylation deficiency (GFM1-related) | GFM1 |
| Combined oxidative phosphorylation deficiency (TSFM-related) | TSFM |
| Combined pituitary hormone deficiency (LHX3-related) | LHX3 |
| Combined pituitary hormone deficiency (PROP1-related) | PROP1 |
| Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency | CYP11B1 |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | CYP21A2 |
| Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency | HSD3B2 |
| Congenital amegakaryocytic thrombocytopenia | MPL |
| Congenital disorder of glycosylation (ALG6-related) | ALG6 |
| Congenital disorder of glycosylation (MPI-related) | MPI |
| Congenital disorder of glycosylation (PMM2-related) | PMM2 |
| Congenital ichthyosis (TGM1-related) | TGM1 |
| Congenital insensitivity to pain with anhidrosis | NTRK1 |
| Congenital myasthenic syndrome (CHRNE-related) | CHRNE |
| Corneal dystrophy and perceptive deafness | SLC4A11 |
| CYP17A1-related disorders | CYP17A1 |
| Cystinosis | CTNS |
| DHDDS-related disorders | DHDDS |
| Dihydrolipoamide dehydrogenase deficiency (DLD) | DLD |
| Dysferlinopathy | DYSF |
| Dystrophic epidermolysis bullosa (COL7A1-related) | COL7A1 |
| Ehlers-Danlos syndrome, dermatosparaxis type | ADAMTS2 |
| Ellis-van Creveld syndrome (EVC-related) | EVC |
| Ellis-van Creveld syndrome (EVC2-related) | EVC2 |
| Enhanced S-cone syndrome/ retinitis pigmentosa 37 | NR2E3 |
| Ethylmalonic encephalopathy | ETHE1 |
| Familial dysautonomia | ELP1 |
| Familial hypercholesterolemia (LDLR-related) | LDLR |
| Familial hypercholesterolemia (LDLRAP1-related) | LDLRAP1 |
| Fanconi anemia type A | FANCA |
| Fanconi anemia type C | FANCC |
| Fanconi anemia type G | FANCG |
| FKRP-related disorders | FKRP |
| FKTN-related disorders | FKTN |
| Fumarate hydratase deficiency | FH |
| Galactokinase deficiency galactosemia | GALK1 |
| Galactosemia (GALT-related) | GALT |
| Gaucher disease | GBA |
| Gitelman syndrome (SLC12A3-related) | SLC12A3 |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | GJB2 |
| GLE1-related disorders | GLE1 |
| Glutaric acidemia type I | GCDH |
| Glutaric acidemia type IIA | ETFA |
| Glutaric acidemia type IIC | ETFDH |
| Glycine encephalopathy (AMT-related) | AMT |
| Glycine encephalopathy (GLDC-related) | GLDC |
| Glycogen storage disease type Ia | G6PC |
| Glycogen storage disease type Ib | SLC37A4 |
| Glycogen storage disease type II (Pompe disease) | GAA |
| Glycogen storage disease type III | AGL |
| Glycogen storage disease type IV/ adult polyglucosan body disease | GBE1 |
| Glycogen storage disease type V | PYGM |
| Glycogen storage disease type VII | PFKM |
| GRACILE syndrome/ BCS1L-related disorders | BCS1L |
| Guanidinoacetate methyltransferase deficiency | GAMT |
| HBB-related hemoglobinopathies | HBB |
| Hereditary fructose intolerance | ALDOB |
| Hereditary hemochromatosis type 2 (HJV-related) | HJV |
| Hereditary hemochromatosis type 3 | TFR2 |
| Hermansky-Pudlak syndrome type 1 | HPS1 |
| Hermansky-Pudlak syndrome type 3 | HPS3 |
| Holocarboxylase synthetase deficiency | HLCS |
| Homocystinuria due to CBS deficiency | CBS |
| Homocystinuria due to MTHFR deficiency | MTHFR |
| Homocystinuria, cobalamin E type | MTRR |
| HSD17B4-related disorders | HSD17B4 |
| Hydrolethalus syndrome type 1 | HYLS1 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome | SLC25A15 |
| Hypophosphatasia | ALPL |
| Inclusion body myopathy 2 | GNE |
| Isovaleric acidemia | IVD |
| Joubert syndrome 2/ TMEM216-related disorders | TMEM216 |
| Junctional epidermolysis bullosa (LAMB3-related) | LAMB3 |
| Junctional epidermolysis bullosa (LAMC2-related) | LAMC2 |
| KCNJ11-related disorders | KCNJ11 |
| Krabbe disease | GALC |
| LAMA2-related muscular dystrophy | LAMA2 |
| LAMA3-related disorders | LAMA3 |
| Leber congenital amaurosis 10/ CEP290-related disorders | CEP290 |
| Leber congenital amaurosis 13 | RDH12 |
| Leber congenital amaurosis 5 | LCA5 |
| Leber congenital amaurosis 8/ CRB1-related disorders | CRB1 |
| Leigh syndrome, French Canadian type | LRPPRC |
| Leukoencephalopathy with vanishing white matter (EIF2B5-related) | EIF2B5 |
| Limb-girdle muscular dystrophy type 2A (calpainopathy) | CAPN3 |
| Limb-girdle muscular dystrophy type 2C | SGCG |
| Limb-girdle muscular dystrophy type 2D | SGCA |
| Limb-girdle muscular dystrophy type 2E | SGCB |
| Lipoid congenital adrenal hyperplasia | STAR |
| Lipoprotein lipase deficiency | LPL |
| Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | HADHA |
| Lysinuric protein intolerance | SLC7A7 |
| Lysosomal acid lipase deficiency | LIPA |
| Major histocompatibility complex class II deficiency (CIITA-related) | CIITA |
| Maple syrup urine disease (MSUD) type 1A | BCKDHA |
| Maple syrup urine disease (MSUD) type 1B | BCKDHB |
| Maple syrup urine disease (MSUD) type 2 | DBT |
| Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | ACADM |
| Megalencephalic leukoencephalopathy with subcortical cysts type 1 | MLC1 |
| Metachromatic leukodystrophy (ARSA-related) | ARSA |
| Methylmalonic acidemia (MMAA-related) | MMAA |
| Methylmalonic acidemia (MMAB-related) | MMAB |
| Methylmalonic acidemia (MUT-related) | MUT |
| Methylmalonic acidemia with homocystinuria, cobalamin C type | MMACHC |
| Methylmalonic acidemia with homocystinuria, cobalamin D type | MMADHC |
| Microphthalmia /clinical anophthalmia (VSX2-related) | VSX2 |
| Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) | NDUFAF5 |
| Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6- related) | NDUFS6 |
| Mitochondrial DNA depletion syndrome (MPV17-related) | MPV17 |
| Mitochondrial myopathy and sideroblastic anemia 1 | PUS1 |
| Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease | TYMP |
| MKS1-related disorders | MKS1 |
| Mucolipidosis type II/III (GNPTAB-related) | GNPTAB |
| Mucolipidosis type III (GNPTG-related) | GNPTG |
| Mucolipidosis type IV | MCOLN1 |
| Mucopolysaccharidosis type I | IDUA |
| Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) | SGSH |
| Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) | NAGLU |
| Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome)/ retinitis pigmentosa 73 | HGSNAT |
| Mucopolysaccharidosis type IIID (Sanfilippo D syndrome) | GNS |
| Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis | GLB1 |
| Mucopolysaccharidosis type IX | HYAL1 |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | ARSB |
| Multiple sulfatase deficiency | SUMF1 |
| N-Acetylglutamate synthase deficiency | NAGS |
| Nemaline myopathy 2 | NEB |
| Nephrogenic diabetes insipidus (AQP2-related) | AQP2 |
| Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related) | NPHS1 |
| Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) | NPHS2 |
| Neuronal ceroid lipofuscinosis (TPP1-related) | TPP1 |
| Neuronal ceroid-lipofuscinosis (CLN3-related) | CLN3 |
| Neuronal ceroid-lipofuscinosis (CLN5-related) | CLN5 |
| Neuronal ceroid-lipofuscinosis (CLN6-related) | CLN6 |
| Neuronal ceroid-lipofuscinosis (MFSD8-related) | MFSD8 |
| Neuronal ceroid-lipofuscinosis (PPT1-related) | PPT1 |
| Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) | CLN8 |
| Niemann-Pick disease type A/B | SMPD1 |
| Niemann-Pick disease type C (NPC1-related) | NPC1 |
| Niemann-Pick disease type C (NPC2-related) | NPC2 |
| Nijmegen breakage syndrome | NBN |
| OPA3-related conditions | OPA3 |
| Ornithine aminotransferase deficiency | OAT |
| Osteopetrosis (TCIRG1-related) | TCIRG1 |
| Pendred syndrome | SLC26A4 |
| Peroxisomal acyl-CoA oxidase deficiency | ACOX1 |
| Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) | PAH |
| Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1 | PHGDH |
| Polycystic kidney disease (PKHD1-related) | PKHD1 |
| Polymicrogyria (ADGRG1-related) | ADGRG1 |
| POMGNT1-related disorders | POMGNT1 |
| Pontocerebellar hypoplasia (RARS2-related) | RARS2 |
| Pontocerebellar hypoplasia (SEPSECS-related) | SEPSECS |
| Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related) | MED17 |
| Primary carnitine deficiency | SLC22A5 |
| Primary Ciliary Dyskinesia (DNAH5-related) | DNAH5 |
| Primary Ciliary Dyskinesia (DNAI1-related) | DNAI1 |
| Primary Ciliary Dyskinesia (DNAI2-related) | DNAI2 |
| Primary hyperoxaluria type 1 | AGXT |
| Primary hyperoxaluria type 2 | GRHPR |
| Primary hyperoxaluria type 3 | HOGA1 |
| Progressive familial intrahepatic cholestasis type 2 | ABCB11 |
| Propionic acidemia (PCCA-related) | PCCA |
| Propionic acidemia (PCCB-related) | PCCB |
| PSAP-related disorders | PSAP |
| Pycnodysostosis | CTSK |
| Pyruvate carboxylase deficiency | PC |
| Pyruvate dehydrogenase complex deficiency (PDHB-related) | PDHB |
| RAPSN-related disorders | RAPSN |
| Renal tubular acidosis with deafness (ATP6V1B1-related) | ATP6V1B1 |
| Retinitis pigmentosa 25 | EYS |
| Retinitis pigmentosa 26 | CERKL |
| Retinitis Pigmentosa 28 | FAM161A |
| Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) | PEX7 |
| Rhizomelic chondrodysplasia punctata type 3 | AGPS |
| Roberts syndrome | ESCO2 |
| RPE65-related disorders | RPE65 |
| RPGRIP1L-related disorders | RPGRIP1L |
| RTEL-1-related disorders | RTEL1 |
| Sandhoff disease | HEXB |
| Schimke immuno-osseous dysplasia | SMARCAL1 |
| Severe combined immune deficiency (DCLRE1C-related) | DCLRE1C |
| Severe combined immunodeficiency (RAG2-related) | RAG2 |
| Severe congenital neutropenia due to VPS45-deficiency | VPS45 |
| Severe congenital neutropenia type 3 | HAX1 |
| Sialic acid storage disorders | SLC17A5 |
| Sjögren-Larsson syndrome | ALDH3A2 |
| SLC26A2-related disorders | SLC26A2 |
| SLC35A3-related disorders | SLC35A3 |
| Smith-Lemli-Opitz syndrome | DHCR7 |
| Spastic paraplegia type 15 | ZFYVE26 |
| Spastic paraplegia type 49 | TECPR2 |
| Spinal muscular atrophy | SMN1 |
| Spondylothoracic dysostosis | MESP2 |
| Steel Syndrome | COL27A1 |
| Stüve-Wiedemann syndrome | LIFR |
| Tay-Sachs disease/ hexosaminidase A deficiency | HEXA |
| Tetrahydrobiopterin deficiency (PTS-related) | PTS |
| Transient infantile liver failure | TRMU |
| Tyrosine hydroxylase deficiency | TH |
| Tyrosinemia type I | FAH |
| Tyrosinemia type II | TAT |
| Usher syndrome type IB/ MYO7A-related disorders | MYO7A |
| Usher syndrome type IC/ USH1C-related disorders | USH1C |
| Usher syndrome type ID | CDH23 |
| Usher syndrome type IF/ PCDH15-related disorders | PCDH15 |
| Usher syndrome type IIA/ USH2A-related disorders | USH2A |
| Usher syndrome type IIIA | CLRN1 |
| Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | ACADVL |
| VRK1-related disorders | VRK1 |
| Wilson disease | ATP7B |
| WNT10A-related disorders | WNT10A |
| Xeroderma pigmentosum complementation group A | XPA |
| Xeroderma pigmentosum complementation group C | XPC |
| Zellweger spectrum disorder (PEX1-related) | PEX1 |
| Zellweger spectrum disorder (PEX10-related) | PEX10 |
| Zellweger spectrum disorder (PEX12-related) | PEX12 |
| Zellweger spectrum disorder (PEX2-related) | PEX2 |
| Zellweger spectrum disorder (PEX6-related) | PEX6 |
Clinical sensitivity
Carrier frequency, detection rates and residual risks are available here.
References
- ACOG: Carrier screening for genetic conditions. Committee Opinion No. 691. Obstet Gynecol. 2017; 129(3):e41-e55. PMID: 28225426
- ACOG: Carrier screening in the age of genomic medicine. Committee Opinion No. 690. Obstet Gynecol. 2017; 129(3):595-596. PMID: 28225420
- Jewish Genetic Disease Consortium
- The Norton & Elaine Sarnoff Center for Jewish Genetics
Assay
Assay and technical information
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| ABCB11 | NM_003742.2 | ||
| ABCC8 | NM_000352.4 | ||
| ACAD9 | NM_014049.4 | ||
| ACADM | NM_000016.5 | ||
| ACADVL | NM_000018.3 | ||
| ACAT1 | NM_000019.3 | ||
| ACOX1 | NM_004035.6 | ||
| ACSF3 | NM_174917.4 | ||
| ADA | NM_000022.2 | ||
| ADAMTS2 | NM_014244.4 | ||
| ADGRG1 | NM_005682.6 | ||
| AGA | NM_000027.3 | ||
| AGL | NM_000642.2 | ||
| AGPS | NM_003659.3 | ||
| AGXT | NM_000030.2 | ||
| AIRE | NM_000383.3 | ||
| ALDH3A2 | NM_000382.2 | ||
| ALDOB | NM_000035.3 | ||
| ALG6* | NM_013339.3 | ||
| ALMS1 | NM_015120.4 | ||
| ALPL | NM_000478.5 | ||
| AMT | NM_000481.3 | ||
| AQP2 | NM_000486.5 | ||
| ARG1 | NM_000045.3 | ||
| ARSA | NM_000487.5 | ||
| ARSB | NM_000046.3 | ||
| ASL | NM_000048.3 | ||
| ASNS | NM_133436.3 | ||
| ASPA | NM_000049.2 | ||
| ASS1 | NM_000050.4 | ||
| ATM | NM_000051.3 | ||
| ATP6V1B1 | NM_001692.3 | ||
| ATP7B | NM_000053.3 | ||
| BBS1 | NM_024649.4 | ||
| BBS10 | NM_024685.3 | ||
| BBS12 | NM_152618.2 | ||
| BBS2 | NM_031885.3 | ||
| BCKDHA | NM_000709.3 | ||
| BCKDHB | NM_183050.2 | ||
| BCS1L | NM_004328.4 | ||
| BLM | NM_000057.3 | ||
| BSND | NM_057176.2 | ||
| BTD | NM_000060.3 | ||
| CAPN3 | NM_000070.2 | ||
| CBS | NM_000071.2 | ||
| CDH23 | NM_022124.5 | ||
| CEP290* | NM_025114.3 | ||
| CERKL | NM_001030311.2 | ||
| CFTR* | NM_000492.3 | ||
| CHRNE* | NM_000080.3 | ||
| CIITA | NM_000246.3 | ||
| CLN3* | NM_001042432.1 | ||
| CLN5 | NM_006493.2 | ||
| CLN6 | NM_017882.2 | ||
| CLN8 | NM_018941.3 | ||
| CLRN1 | NM_174878.2 | ||
| CNGB3 | NM_019098.4 | ||
| COL27A1* | NM_032888.3 | ||
| COL4A3 | NM_000091.4 | ||
| COL4A4 | NM_000092.4 | ||
| COL7A1 | NM_000094.3 | ||
| CPS1 | NM_001875.4 | ||
| CPT1A | NM_001876.3 | ||
| CPT2 | NM_000098.2 | ||
| CRB1 | NM_201253.2 | ||
| CTNS | NM_004937.2 | ||
| CTSK | NM_000396.3 | ||
| CYBA | NM_000101.3 | ||
| CYP11B1 | NM_000497.3 | ||
| CYP11B2 | NM_000498.3 | ||
| CYP17A1 | NM_000102.3 | ||
| CYP19A1 | NM_031226.2 | ||
| CYP21A2* | NM_000500.7 | ||
| CYP27A1 | NM_000784.3 | ||
| DBT | NM_001918.3 | ||
| DCLRE1C | NM_001033855.2 | ||
| DHCR7 | NM_001360.2 | ||
| DHDDS | NM_024887.3 | ||
| DLD | NM_000108.4 | ||
| DNAH5 | NM_001369.2 | ||
| DNAI1 | NM_012144.3 | ||
| DNAI2 | NM_023036.4 | ||
| DYSF | NM_003494.3 | ||
| EIF2B5 | NM_003907.2 | ||
| ELP1 | NM_003640.3 | ||
| ERCC6 | NM_000124.3 | ||
| ERCC8 | NM_000082.3 | ||
| ESCO2 | NM_001017420.2 | ||
| ETFA | NM_000126.3 | ||
| ETFDH | NM_004453.3 | ||
| ETHE1 | NM_014297.3 | ||
| EVC | NM_153717.2 | ||
| EVC2 | NM_147127.4 | ||
| EYS | NM_001142800.1 | ||
| F11 | NM_000128.3 | ||
| F2* | NM_000506.3 | ||
| F5* | NM_000130.4 | ||
| FAH* | NM_000137.2 | ||
| FAM161A | NM_001201543.1 | ||
| FANCA | NM_000135.2 | ||
| FANCC | NM_000136.2 | ||
| FANCG | NM_004629.1 | ||
| FH | NM_000143.3 | ||
| FKRP | NM_024301.4 | ||
| FKTN* | NM_001079802.1 | ||
| G6PC | NM_000151.3 | ||
| GAA* | NM_000152.3 | ||
| GALC* | NM_000153.3 | ||
| GALK1 | NM_000154.1 | ||
| GALT* | NM_000155.3 | ||
| GAMT | NM_000156.5 | ||
| GBA* | NM_001005741.2 | ||
| GBE1 | NM_000158.3 | ||
| GCDH | NM_000159.3 | ||
| GFM1 | NM_024996.5 | ||
| GJB2 | NM_004004.5 | ||
| GLB1 | NM_000404.2 | ||
| GLDC | NM_000170.2 | ||
| GLE1 | NM_001003722.1 | ||
| GNE | NM_001128227.2 | ||
| GNPTAB | NM_024312.4 | ||
| GNPTG | NM_032520.4 | ||
| GNS | NM_002076.3 | ||
| GP1BA* | NM_000173.6 | ||
| GP9 | NM_000174.4 | ||
| GRHPR | NM_012203.1 | ||
| HADHA | NM_000182.4 | ||
| HAX1 | NM_006118.3 | ||
| HBA1, HBA2* | NM_000558.4; NM_000517.4 | ||
| HBB* | NM_000518.4 | ||
| HEXA | NM_000520.4 | ||
| HEXB | NM_000521.3 | ||
| HFE | NM_000410.3 | ||
| HGD | NM_000187.3 | ||
| HGSNAT | NM_152419.2 | ||
| HJV | NM_213653.3 | ||
| HLCS | NM_000411.6 | ||
| HMGCL | NM_000191.2 | ||
| HOGA1 | NM_138413.3 | ||
| HPS1 | NM_000195.4 | ||
| HPS3 | NM_032383.4 | ||
| HSD17B4 | NM_000414.3 | ||
| HSD3B2 | NM_000198.3 | ||
| HYAL1 | NM_153281.1 | ||
| HYLS1 | NM_145014.2 | ||
| IDUA | NM_000203.4 | ||
| IVD | NM_002225.3 | ||
| KCNJ11 | NM_000525.3 | ||
| LAMA2 | NM_000426.3 | ||
| LAMA3 | NM_000227.4 | ||
| LAMB3 | NM_000228.2 | ||
| LAMC2 | NM_005562.2 | ||
| LCA5 | NM_181714.3 | ||
| LDLR | NM_000527.4 | ||
| LDLRAP1 | NM_015627.2 | ||
| LHX3 | NM_014564.4 | ||
| LIFR | NM_002310.5 | ||
| LIPA | NM_000235.3 | ||
| LOXHD1 | NM_144612.6 | ||
| LPL | NM_000237.2 | ||
| LRPPRC | NM_133259.3 | ||
| MAN2B1 | NM_000528.3 | ||
| MCCC1 | NM_020166.4 | ||
| MCCC2 | NM_022132.4 | ||
| MCOLN1 | NM_020533.2 | ||
| MED17 | NM_004268.4 | ||
| MEFV | NM_000243.2 | ||
| MESP2 | NM_001039958.1 | ||
| MFSD8 | NM_152778.2 | ||
| MKS1* | NM_017777.3 | ||
| MLC1 | NM_015166.3 | ||
| MMAA | NM_172250.2 | ||
| MMAB | NM_052845.3 | ||
| MMACHC | NM_015506.2 | ||
| MMADHC* | NM_015702.2 | ||
| MPI | NM_002435.2 | ||
| MPL | NM_005373.2 | ||
| MPV17 | NM_002437.4 | ||
| MTHFR* | NM_005957.4 | ||
| MTRR* | NM_002454.2 | ||
| MTTP | NM_000253.3 | ||
| MUT | NM_000255.3 | ||
| MYO7A | NM_000260.3 | ||
| NAGLU | NM_000263.3 | ||
| NAGS | NM_153006.2 | ||
| NBN* | NM_002485.4 | ||
| NDRG1 | NM_006096.3 | ||
| NDUFAF5 | NM_024120.4 | ||
| NDUFS6 | NM_004553.4 | ||
| NEB* | NM_001271208.1 | ||
| NPC1 | NM_000271.4 | ||
| NPC2 | NM_006432.3 | ||
| NPHS1 | NM_004646.3 | ||
| NPHS2 | NM_014625.3 | ||
| NR2E3 | NM_014249.3 | ||
| NTRK1 | NM_001012331.1 | ||
| OAT* | NM_000274.3 | ||
| OPA3 | NM_025136.3 | ||
| PAH | NM_000277.1 | ||
| PC* | NM_000920.3 | ||
| PCCA | NM_000282.3 | ||
| PCCB | NM_000532.4 | ||
| PCDH15 | NM_033056.3 | ||
| PDHB | NM_000925.3 | ||
| PEX1 | NM_000466.2 | ||
| PEX10 | NM_153818.1 | ||
| PEX12 | NM_000286.2 | ||
| PEX2 | NM_000318.2 | ||
| PEX6 | NM_000287.3 | ||
| PEX7 | NM_000288.3 | ||
| PFKM | NM_000289.5 | ||
| PHGDH | NM_006623.3 | ||
| PKHD1 | NM_138694.3 | ||
| PMM2 | NM_000303.2 | ||
| POMGNT1 | NM_017739.3 | ||
| PPT1* | NM_000310.3 | ||
| PROP1 | NM_006261.4 | ||
| PSAP | NM_002778.3 | ||
| PTS | NM_000317.2 | ||
| PUS1 | NM_025215.5 | ||
| PYGM | NM_005609.3 | ||
| RAB23 | NM_183227.2 | ||
| RAG2 | NM_000536.3 | ||
| RAPSN* | NM_005055.4 | ||
| RARS2 | NM_020320.3 | ||
| RDH12 | NM_152443.2 | ||
| RMRP | NR_003051.3 | ||
| RPE65 | NM_000329.2 | ||
| RPGRIP1L* | NM_015272.2 | ||
| RTEL1 | NM_001283009.1 | ||
| SACS | NM_014363.5 | ||
| SAMHD1 | NM_015474.3 | ||
| SEPSECS | NM_016955.3 | ||
| SERPINA1 | NM_000295.4 | ||
| SGCA | NM_000023.2 | ||
| SGCB | NM_000232.4 | ||
| SGCG | NM_000231.2 | ||
| SGSH | NM_000199.3 | ||
| SLC12A3 | NM_000339.2 | ||
| SLC12A6 | NM_133647.1 | ||
| SLC17A5 | NM_012434.4 | ||
| SLC22A5 | NM_003060.3 | ||
| SLC25A13 | NM_014251.2 | ||
| SLC25A15 | NM_014252.3 | ||
| SLC26A2* | NM_000112.3 | ||
| SLC26A4 | NM_000441.1 | ||
| SLC35A3 | NM_012243.2 | ||
| SLC37A4 | NM_001164277.1 | ||
| SLC39A4 | NM_130849.3 | ||
| SLC4A11 | NM_032034.3 | ||
| SLC7A7 | NM_001126106.2 | ||
| SMARCAL1 | NM_014140.3 | ||
| SMN1* | NM_000344.3 | ||
| SMPD1 | NM_000543.4 | ||
| STAR | NM_000349.2 | ||
| SUMF1 | NM_182760.3 | ||
| TAT | NM_000353.2 | ||
| TCIRG1 | NM_006019.3 | ||
| TECPR2 | NM_014844.3 | ||
| TFR2 | NM_003227.3 | ||
| TGM1 | NM_000359.2 | ||
| TH | NM_199292.2 | ||
| TMEM216 | NM_001173990.2 | ||
| TPP1 | NM_000391.3 | ||
| TRMU | NM_018006.4 | ||
| TSFM* | NM_001172696.1 | ||
| TTPA | NM_000370.3 | ||
| TYMP | NM_001953.4 | ||
| USH1C* | NM_005709.3 | ||
| USH2A | NM_206933.2 | ||
| VPS13A* | NM_033305.2 | ||
| VPS13B | NM_017890.4 | ||
| VPS45 | NM_007259.4 | ||
| VRK1 | NM_003384.2 | ||
| VSX2 | NM_182894.2 | ||
| WNT10A | NM_025216.2 | ||
| XPA | NM_000380.3 | ||
| XPC | NM_004628.4 | ||
| ZFYVE26 | NM_015346.3 |
ALG6 (Carrier): Deletion/duplication analysis is not offered for exons 11-12.
CEP290 (Carrier): CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.
CFTR (Carrier): CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[13]T[5] (also known as T5TG13), 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.
CHRNE (Carrier): CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T, NM_000080.3:c.-95G>A, and NM_000080.3:c.-94G>A.
CLN3 (Carrier): CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
COL27A1 (Carrier): Deletion/duplication analysis is not offered for exons 46-47.
CYP21A2 (Carrier): The most common variants (c.92C>T (p.Pro31Leu), c.293-13C>G (intronic), c.332_339delGAGACTAC (p.Gly111Valfs*21), c.518T>A (p.Ile173Asn), c.710T>A (p.Ile237Asn), c.713T>A (p.Val238Glu), c.719T>A (p.Met240lys), c.844G>T (p.Val282Leu), c.923dupT (p.Leu308Phefs*6), c.955C>T (p.Gln319*), c.1069C>T (p.Arg357Trp), c.1360C>T (p.Pro454Ser) and the 30Kd deletion) as well as select rare HGMD variants (list available upon request). Full gene duplications are reported only in the presence of a pathogenic variant(s)). When a duplication and a pathogenic variant(s) is identified, phase (cis/trans) cannot be determined. Full gene deletion analysis is not offered. Sensitivity to detect these variants if they result from complex gene conversion/fusion events may be reduced.
F2 (Carrier): Prothrombin G20210A (c.*97G>A) variant only.
F5 (Carrier): Factor V Leiden variant only.
FAH (Carrier): Deletion/duplication analysis is not offered for exon 14.
FKTN (Carrier): FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
GAA (Carrier): GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC (Carrier): Deletion/duplication analysis is not offered for exon 6.
GALT (Carrier): 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.
GBA (Carrier): c.84dupG (p.Leu29Alafs*18), c.115+1G>A (Splice donor), c.222_224delTAC (p.Thr75del), c.475C>T (p.Arg159Trp), c.595_596delCT (p.Leu199Aspfs*62), c.680A>G (p.Asn227Ser), c.721G>A (p.Gly241Arg), c.754T>A (p.Phe252Ile), c.1226A>G (p.Asn409Ser), c.1246G>A (p.Gly416Ser), c.1263_1317del (p.Leu422Profs*4), c.1297G>T (p.Val433Leu), c.1342G>C (p.Asp448His), c.1343A>T (p.Asp448Val), c.1448T>C (p.Leu483Pro), c.1504C>T (p.Arg502Cys), c.1505G>A (p.Arg502His), c.1603C>T (p.Arg535Cys), c.1604G>A (p.Arg535His) variants only. Sensitivity to detect these variants if they result from complex gene conversion events may be reduced.
GP1BA (Carrier): c.104delA (p.Lys35Argfs*4), c.165_168delTGAG (p.Ser55Argfs*12), c.376A>G (p.Asn126Asp), c.434T>C (p.Leu145Pro), c.515C>T (p.Ala172Val), c.584_586delTCC (p.Leu195del), c.673T>A (p.Cys225Ser), c.1454dupT (p.Ser486Ilefs*12), c.1480delA (p.Thr494Profs*59), c.1601_1602delAT (p.Tyr534Cysfs*82), c.1620G>A (p.Trp540*) variants only.
HBA1 (Carrier): HBA1/2: This assay is designed to detect deletions and duplications of HBA1 and/or HBA2, resulting from the -alpha20.5, --MED, --SEA, --FIL/--THAI, -alpha3.7, -alpha4.2, anti3.7 and anti4.2. Sensitivity to detect other copy number variants may be reduced. Detection of overlapping deletion and duplication events will be limited to combinations of events with significantly differing boundaries. In addition, this assay detects deletion of the enhancer element HS40 and the sequence variant, Constant Spring (NM_000517.4:c.427T>C).; HBA2 (Carrier): Sequencing analysis is not offered for exons 1-2.
HBB (Carrier): HBB: Analysis includes c.-300 to c.*300 (including the intervening sequence).
MKS1 (Carrier): MKS1: Analysis includes the intronic variant NM_017777.3: c.1408-35_1408-7del.
MMADHC (Carrier): Deletion/duplication analysis is not offered for exons 5-6.
MTHFR (Carrier): The NM_005957.4:c.665C>T (p.Ala222Val) (aka 677C>T) and c.1286A>C (p.Glu429Ala) (aka 1298A>C) variants are not reported in our primary report.
MTRR (Carrier): MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
NBN (Carrier): Deletion/duplication analysis is not offered for exons 15-16.
NEB (Carrier): NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat. Deletion/duplication analysis is not offered for exons 82-105. NEB variants in this region with no evidence towards pathogenicity are not included in this report, but are available upon request.
OAT (Carrier): Deletion/duplication analysis is not offered for exon 2.
PC (Carrier): PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.
PPT1 (Carrier): PPT1: Analysis includes the intronic variant NM_000310.3:c.125-15T>G.
RAPSN (Carrier): RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
RPGRIP1L (Carrier): Sequencing analysis is not offered for exon 23.
SLC26A2 (Carrier): SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C.
SMN1 (Carrier): SMN1: Systematic exon numbering is used for all genes, including SMN1, and for this reason the exon typically referred to as exon 7 in the literature (PMID: 8838816) is referred to as exon 8 in this report. This assay unambiguously detects SMN1 exon 8 copy number. The presence of the g.27134T>G variant (also known as c.*3+80T>G) is reported if SMN1 copy number = 2.; SMN1 or SMN2 (Carrier): NM_000344.3:c.*3+80T>G variant only.
TSFM (Carrier): Sequencing analysis is not offered for exon 5.
USH1C (Carrier): Deletion/duplication analysis is not offered for exons 5-6.
VPS13A (Carrier): Deletion/duplication analysis is not offered for exons 2-3, 27-28.
Resources
Clinical resources
Carrier negative sample report Carrier positive sample report Carrier test menu Patient informed consent (carrier)Patient resources
Carrier screening patient guideReferences
- ACOG: Carrier screening for genetic conditions. Committee Opinion No. 691. Obstet Gynecol. 2017; 129(3):e41-e55. PMID: 28225426
- ACOG: Carrier screening in the age of genomic medicine. Committee Opinion No. 690. Obstet Gynecol. 2017; 129(3):595-596. PMID: 28225420
- Jewish Genetic Disease Consortium
- The Norton & Elaine Sarnoff Center for Jewish Genetics
