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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.

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Primary panel (46 genes)

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:

DisorderGene
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

Carrier frequency, detection rates and residual risks are available here.

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: Deletion/duplication analysis is not offered for exon 6.
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.