- 5615 NW Central Dr Suite C107 Houston, TX 77092
- 832.932.2188
- [email protected]
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.
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.
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
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
©Copyright 2024 Houston Diagnostics Lab. All Rights Reserved.
