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Invitae Broad Carrier Screen
Test description
The Invitae Broad Carrier Screen includes 46 genes associated with disorders that may have a severe presentation and are prevalent across ethnicities.
This panel includes:
- all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
- disorders recommended by national Jewish societies
- prevalent disorders with an elevated carrier frequency across ethnicities
- well-defined disorders that may have a severe impact on quality of life
- several X-linked disorders, including fragile X syndrome and Duchenne/Becker muscular dystrophy
Please see the Disorders Tested table for a complete list of disorders tested.
Carrier frequency, detection rates and residual risks are available here.
Genes tested
ABCC8 ABCD1 ACADM ASPA ASS1 BCKDHA BCKDHB BLM CFTR CLN3 CLRN1 DHCR7 DLD DMD ELP1 FAH FANCC FKTN FMR1 G6PC GAA GALC GALT GBA GJB2 HBA1, HBA2 HBB HEXA IDUA IL2RG MCOLN1 NEB OTC PAH PCDH15 PEX1 PEX6 PEX7 PKHD1 PMM2 SLC26A4 SMN1 SMPD1 TMEM216 USH2A
Order test
Primary panel (46 genes)
Customized gene selection (0 included, 0 excluded)
ABCC8 ABCD1 ACADM ASPA ASS1 BCKDHA BCKDHB BLM CFTR CLN3 CLRN1 DHCR7 DLD DMD ELP1 FAH FANCC FKTN FMR1 G6PC GAA GALC GALT GBA GJB2 HBA1, HBA2 HBB HEXA IDUA IL2RG MCOLN1 NEB OTC PAH PCDH15 PEX1 PEX6 PEX7 PKHD1 PMM2 SLC26A4 SMN1 SMPD1 TMEM216 USH2A
Alternative tests to consider
Additional genes can be included with any carrier screen. Add this panel to your cart and then go to the carrier gene list to see the full list of available carrier genes.
Other carrier screening options:
Clinical information
Disorders tested
| Disorder | Gene |
|---|---|
| Alpha-thalassemia | HBA1/HBA2 |
| Bloom syndrome | BLM |
| Canavan disease | ASPA |
| Citrullinemia type 1 | ASS1 |
| Congenital disorder of glycosylation (PMM2-related) | PMM2 |
| Cystic fibrosis/ CFTR-related disorders | CFTR |
| Dihydrolipoamide dehydrogenase deficiency (DLD) | DLD |
| DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and Dilated cardiomyopathy) | DMD |
| Familial dysautonomia | ELP1 |
| Familial hyperinsulinism (ABCC8-related) | ABCC8 |
| Fanconi anemia type C | FANCC |
| Fragile X syndrome | FMR1 |
| Galactosemia (GALT-related) | GALT |
| Gaucher disease | GBA |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | GJB2 |
| Glycogen storage disease type Ia | G6PC |
| Glycogen storage disease type II (Pompe disease) | GAA |
| HBB-related hemoglobinopathies (including Beta-thalassemia and Sickle cell disease) | HBB |
| Joubert syndrome 2/ TMEM216-related disorders | TMEM216 |
| Krabbe disease | GALC |
| Maple syrup urine disease (MSUD) type 1A | BCKDHA |
| Maple syrup urine disease (MSUD) type 1B | BCKDHB |
| Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | ACADM |
| Mucolipidosis type IV | MCOLN1 |
| Mucopolysaccharidosis type I (includes Hurler, Hurler-Scheie, and Scheie syndromes) | IDUA |
| Nemaline myopathy 2 | NEB |
| Neuronal ceroid-lipofuscinosis (CLN3-related) | CLN3 |
| Niemann-Pick disease type A/B | SMPD1 |
| Ornithine transcarbamylase (OTC) deficiency | OTC |
| Pendred syndrome | SLC26A4 |
| Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) | PAH |
| Polycystic kidney disease (PKHD1-related) | PKHD1 |
| Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) | PEX7 |
| Smith-Lemli-Opitz syndrome | DHCR7 |
| Spinal muscular atrophy | SMN1 |
| Tay-Sachs disease/ Hexosaminidase A deficiency | HEXA |
| Tyrosinemia type I | FAH |
| Usher syndrome type IF/ PCDH15-related disorders | PCDH15 |
| Usher syndrome type IIA/ USH2A-related disorders | USH2A |
| Usher syndrome type IIIA | CLRN1 |
| Walker-Warburg syndrome/ FKTN-related disorders | FKTN |
| X-linked adrenoleukodystrophy | ABCD1 |
| X-linked severe combined immunodeficiency (X-SCID) | IL2RG |
| Zellweger spectrum disorder (PEX1-related) | PEX1 |
| 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
- The Norton & Elaine Sarnoff Center for Jewish Genetics
- Jewish Genetic Disease Consortium
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, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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 |
|---|---|---|---|
| ABCC8 | NM_000352.4 | ||
| ABCD1 | NM_000033.3 | ||
| ACADM | NM_000016.5 | ||
| ASPA | NM_000049.2 | ||
| ASS1 | NM_000050.4 | ||
| BCKDHA | NM_000709.3 | ||
| BCKDHB | NM_183050.2 | ||
| BLM | NM_000057.3 | ||
| CFTR* | NM_000492.3 | ||
| CLN3* | NM_001042432.1 | ||
| CLRN1 | NM_174878.2 | ||
| DHCR7 | NM_001360.2 | ||
| DLD | NM_000108.4 | ||
| DMD* | NM_004006.2 | ||
| ELP1 | NM_003640.3 | ||
| FAH | NM_000137.2 | ||
| FANCC | NM_000136.2 | ||
| FKTN* | NM_001079802.1 | ||
| FMR1* | NM_002024.5 | ||
| G6PC | NM_000151.3 | ||
| GAA* | NM_000152.3 | ||
| GALC* | NM_000153.3 | ||
| GALT* | NM_000155.3 | ||
| GBA* | NM_001005741.2 | ||
| GJB2 | NM_004004.5 | ||
| HBA1, HBA2* | HBA1: NM_000558.4, HBA2: NM_000517.4 | ||
| HBB | NM_000518.4 | ||
| HEXA | NM_000520.4 | ||
| IDUA | NM_000203.4 | ||
| IL2RG | NM_000206.2 | ||
| MCOLN1 | NM_020533.2 | ||
| NEB* | NM_001271208.1 | ||
| OTC* | NM_000531.5 | ||
| PAH | NM_000277.1 | ||
| PCDH15 | NM_033056.3 | ||
| PEX1 | NM_000466.2 | ||
| PEX6 | NM_000287.3 | ||
| PEX7 | NM_000288.3 | ||
| PKHD1 | NM_138694.3 | ||
| PMM2 | NM_000303.2 | ||
| SLC26A4 | NM_000441.1 | ||
| SMN1* | NM_000344.3 | ||
| SMPD1 | NM_000543.4 | ||
| TMEM216 | NM_001173990.2 | ||
| USH2A | NM_206933.2 |
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.
CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
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_001079802.1:c.*4392_*4393.
FMR1: This assay is designed to detect and categorize CGG repeats found at the promoter region of the FMR1 locus for all alleles reported. This assay is not designed to analyze AGG interruptions. If two equal alleles are reported, this may indicate that both alleles are the same size, or that one allele is the reported size and the other allele is too small to be detected by this analysis.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.
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: 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.
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).
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.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.
SMN1: The SMN1 gene is identical to the SMN2 gene with the exception of exon 8 (typically referred to as exon 7). This assay unambiguously detects SMN1 exon 8 copy number. The presence of the g.27134T>G variant (also known as c.*3+80T>G or SNP analysis for enhanced SMA testing) is reported if SMN1 copy number = 2. Sequence analysis of other point mutations is not included.
Resources
Clinical resources
Carrier negative sample report Carrier positive sample report Carrier test menu Patient informed consentPatient 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
