Introduction

Carrier screening is genetic testing that determines whether an asymptomatic person has a genetic mutation or abnormalities associated with a particular disorder that may be passed on to children. Please check out this video for a brief introduction to Carrier Screening.

Our Carrier Screening Gene Tests are associated with heritable disorders including 32 core and 26 secondary conditions identified by American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologists (ACOG), and recommended by US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children for screening.   These genes are clinically linked to 71 newborn metabolic conditions. Many of these conditions have successful treatment options to enable the child to develop normally if detected early. Most of the conditions are inherited in an autosomal recessive manner while some are in an X-linked recessive manner, as diagramed below.

GxVISION Carrier Screening Gene Test Analysis Types

Full Sequencing            CNV

GxVISION Carrier Screening Test Options

Basic with CF            Screens For up to 5 genes and 6 Conditions, 2 genes and 2 Conditions, or selected Conditions

Genes:

  CFTR, DMD, HBA1, HBA2 , HBB, SMN1

CFTR, SMN1

Conditions:

Alpha-Thalessemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Spinal Muscular Atrophy

Reporting:

Pathogenic SNP/Indel of All Genes Included

Likely Pathogenic SNP/Indel of All Genes Included

Deletion of SMN1 Exon 7 (Dosage Analysis of SMN1)

2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier)

DMD Del/Dup

HBA1/2 Deletion of 2 or More Copies

HBB Deletion

VUSs that could be pathogenic when in a particular phase

(All variants, including VUSs, Likely Benign, and Benign, are available upon request.)

ACOG/ACMG with CF           Screens For  up to 15 Genes and 14 Conditions

 ASPA, BLM, CFTR, DMD, FANCC, GBA, GJB2, HBA1, HBA2, HBB, HEXA, IKBKAP, MCOLN1, SMPD1, SMN1

Alpha-Thalessemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Deafness, Duchenne/Becker Muscular Dystrophy, Familial Dysautonomia, Fanconi Anaemia, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Disease, Types A and B, Spinal Muscular Atrophy, Tay-Sachs Disease

Reporting:

Pathogenic SNP/Indel of All Genes Included

Likely Pathogenic SNP/Indel of All Genes Included

Deletion of SMN1 Exon 7 (Dosage Analysis of SMN1)

2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier)

DMD Del/Dup

Deletion of GJB2

Deletion of HEXA

Deletion of MCOLN1

HBA1/2 Deletion of 2 or More Copies

HBB Deletion

VUSs that could be pathogenic when in a particular phase

(All variants, including VUSs, Likely Benign, and Benign, are available upon request.)

Ashkenazi Jewish Carrier Screening             Screens For 38 Genes and 39 Conditions

ABCC8, ADAMTS2, ASPA, ATP7B, BBS2, BCKDHB, BLM, CFTR, CLRN1, COL4A3, CPT2, DHCR7, DHDDS, DLD, DMD, FAH, FANCC, FKTN,  G6PC, GALT, GBA, HEXA, IKBKAP, MCOLN1, MPL, MTTP, NEB, PCDH15, PEX2, PHGDH, PKHD1, PMM2, RTEL1, SLC35A3, SMN1, SMPD1, SUMF1, TMEM216,

Reporting for SNP/Indel of all genes, Dosage of SMN1, 2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier), DMD Del/Dup, HBA1/2 Deletion of 2 or more copies, deletion of HEXA, deletion of MCOLN1

Pan-Ethnic Carrier Screening             Screens For 167 Genes

ABCC8, ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ACTA2, ACTC1, ADA, ADAMTS2, AGXT, AHCY, APC, APOB, ARG1, ASL, ASPA, ASS1, ATP7B, AUH, BBS2, BCKDHA, BCKDHB, BLM, BTD, CBS, CD320, CFTR, CLRN1, COL3A1, COL4A3, CPT1A, CPT2, CYP1B1, CYP21A2, DBT, DHCR7, DHDDS, DLD, DMD, DNAJC19, DSC2, DSG2, DSP, DUOX2, ETFA, ETFB, ETFDH, FAH, FANCC, FBN1 FKTN, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, GRHPR, HADH, HADHA, HADHB, HBA1, HBA2 HBB, HCFC1, HEXA, HEXB, HLCS, HMGCL, HPD, HSD17B10, IDUA, IKBKAP, IL2RG, IVD, KCNH2, KCNQ1, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPL, MTHFR, MTR, MTRR, MTTP, MUT, MyBPC2, MYH11, MYH7, MYL2, MYL3, NEB, NPC1, NPC2, NPHS1, NPHS2, OPA3, OTC, PAH, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PEX1, PEX2, PHGDH, PKHD1, PKP2, PMM2, POMGNT1, PRKAG2, PTS, QDPR, RTEL1, RYR1, RYR2, SCN5A, SLC22A5, SLC25A13, SLC25A20, SLC26A4, SLC35A3, SLC5A5, SMN1, SMPD1, SUMF1, TAT, TAZ, TCN2, TG, TGFBR1, TGFBR2, THRA, THRB, TMEM216, TMEM43, TNNI3, TNNT2, TPM1, TPO, TSHB, TSHR, USH1b, USH1c

Reporting for SNP/Indel of all genes, Dosage of SMN1, 2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier), DMD Del/Dup, HBA1/2 Deletion of 2 or more copies, deletion of GJB2, deletion of HEXA, deletion of MCOLN1

GxVISION Carrier Screening Gene Selection Criteria 

 Conditions Included In Our Expanded Carrier Screening Meet The Following Criteria:

  • carrier frequency of one in 100 or greater for autosomal recessive genes
  • 1/40,000 or greater disease prevalence for X-linked gene inclusion
  • well-defined phenotype
  • have detrimental effect on quality of life
  • cause cognitive or physical impairment,
  • require surgical or medical intervention
  • have an onset early in life
  • diagnosed prenatally
  • potential opportunities for antenatal intervention to improve perinatal outcomes
  • changes to delivery management to optimize newborn and infant outcomes
  • parental education about special care needs after birth