Inheritest® Ashkenazi Jewish Carrier Screening Panel, NGS

CPT: 81243; 81329; 81412 81412
Updated on 12/31/2018
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Test Details


  • Pan-ethnic Carrier Screening

Test Includes

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.

Specimen Requirements


Whole blood


10 mL


Yellow-top (ACD-A) tube (preferred) or lavender-top (EDTA) tube; yellow-top (ACD-B) tube is not acceptable

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Yellow-top (ACD-A) tube (preferred) or lavender-top (EDTA) tube; yellow-top (ACD-B) tube is not acceptable

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; blood specimens more than four days post draw

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; blood specimens more than four days post draw

Clinical Information

Special Instructions

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 451618 Indication: 42349-1
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 451384 Comments: 77202-0
451920 Inheritest-Ashkenazi Jewish 451386 Method/Limitations: 49549-9
451920 Inheritest-Ashkenazi Jewish 451614 Information Table 36908-2
451920 Inheritest-Ashkenazi Jewish 451333 Disclaimer: N/A
451920 Inheritest-Ashkenazi Jewish 451612 Director Review: 72486-4
451920 Inheritest-Ashkenazi Jewish 451743 PDF 51969-4

For Providers

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The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at Additional information regarding LOINC® codes can be found at, including the LOINC Manual, which can be downloaded at