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Inheritest® Ashkenazi Jewish Carrier Screening Panel, NGS
- Pan-ethnic Carrier Screening
Screening for 38 genes, including fragile X carrier screening and spinal muscular atrophy (SMA) carrier screening. This test includes: ABCC8, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, CLRN1, DHCR7, DLD, FAH, FANCC, FKTN, G6PC, GALT, GBA, HEXA, IKBKAP, MCOLN1, NEB, PCDH15, PKHD1, PMM2, SMPD1, TMEM216, ADAMTS2, BBS2, COL4A3, CPT2, DHDDS, FMR1, MPL, MTTP, PEX2, PHGDH, SLC35A3, SMN1 and SUMF1.
Carrier screening for more than 2,300 mutations in 38 genes, including genes for fragile X syndrome, spinal muscular atrophy, and diseases specific to individuals of Ashkenazi Jewish descent
Variants known to be benign and synonymous variants not previously recorded in our internal variant database are not reported. This analysis does not detect germline mosaicism, and does not rule out the presence of large chromosomal aberrations including deletions, insertions, and rearrangements, or mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.
This test was developed, and its performance characteristics determined, by Esoterix Genetic Laboratories LLC. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Mutation analysis is performed using the Agilent® SureSelect® XT enrichment method and Illumina® next generation sequencing (NGS) platform. Regions of interest include all exons and splice junctions for each gene. Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of interest and is provided separately for each gene. Greater than 98% of target bases are covered at greater than or equal to 20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS) SureSelect® is a registered trademark of Agilent Technologies. Agilent® is a registered trademark of Agilent Technologies. Illumina® is a registered trademark and registered service mark of Illumina Inc.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. Call Integrated Genetics at 855-422-2557 to obtain access to genetic counseling.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451920||Inheritest-Ashkenazi Jewish||451999||Genetic Counselor: NGS Inheri||N/A|
|451920||Inheritest-Ashkenazi Jewish||451997||Specimen Type: InheriTest||31208-2|
|451920||Inheritest-Ashkenazi Jewish||451998||Ethnicity: InheriTest||42784-9|
|451920||Inheritest-Ashkenazi Jewish||451842||Ashkenazi Jewish Results:||53039-4|
|451920||Inheritest-Ashkenazi Jewish||451613||General Comments:||N/A|
|451920||Inheritest-Ashkenazi Jewish||451616||Additional Clinical Info||55752-0|
|451920||Inheritest-Ashkenazi Jewish||451614||Information Table||36908-2|
|451920||Inheritest-Ashkenazi Jewish||451612||Director Review:||72486-4|