Inheritest® Comprehensive Panel, NGS

CPT: 81200; 81205; 81209; 81220; 81232; 81242; 81243; 81250; 81251; 81255; 81260; 81290; 81330; 81361; 81400(x6); 81401(x5); 81402(x2); 81479
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Test Details

Synonyms

  • Pan-ethnic Carrier Screening

Test Includes

Screening for 141 genes, including fragile X carrier screening and spinal muscular atrophy (SMA) carrier screening. This test includes: ABCC8, ACADM, ADA, AGA, AGL, AGXT, ALDH3A2, ALDOB, ARSA, ASL, ASPA, ASS1, ATM, ATP7B, BBS1, BBS10, BCKDHA, BCKDHB, BCS1L, BLM, CBS, CFTR, CLN3, CLN5, CLN8, CLRN1, CTNS, DHCR7, DLD, DPYD, ETHE1, FAH, FANCC, FKTN, G6PC, GAA, GALC, GALT, GBA, GCDH, GLDC, GRHPR, GSS, HADHA, HBB, HEXA, HEXB, HLCS, HMGCL, HSD17B4, IDUA, IKBKAP, LAMA3, LAMB3, LAMC2, LRPPRC, MAN2B1, MCOLN1, MEFV, MMAA, MMAB, MMACHC, MUT, NBN, NEB, NPC1, NPC2, NPHS1, NPHS2, PAH, PCCA, PCCB, PCDH15, PEX1, PEX7, PKHD1, PMM2, PPT1, RMRP, SACS, SLC12A6, SLC17A5, SLC26A2, SLC37A4, SMPD1, TMEM216, TPP1, ACADVL, ACAT1, ADAMTS2, ALPL, AMT, ARSB, BBS2, COL4A3, COX15, CPS1, CPT2, CTSA, DHDDS, ERCC5, FMR1, FOXRED1, FUCA1, GALNS, GAMT, GLB1, GNPTAB, GNS, GUSB, HGSNAT, IDS, IL2RG, MANBA, MPL, MTTP, NAGLU, NDUFAF2, NDUFS4, NDUFS7, NDUFV1, NEU1, OTC, PDHA1, PEX10, PEX12, PEX2, PEX26, PEX6, PHGDH, SGSH, SLC22A5, SLC25A20, SLC35A3, SMN1, SUMF1, SURF1, TTPA, VPS13B, XPA and XPC.

Use

Carrier screening for more than 7,400 mutations in 141 genes associated with more than 114 different inherited diseases, including fragile X syndrome and spinal muscular atrophy

Limitations

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).

Methodology

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

Specimen

Whole blood

Volume

10 mL

Container

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

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

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451950 Inheritest Comprehensive 451999 Genetic Counselor: NGS Inheri N/A
451950 Inheritest Comprehensive 451997 Specimen Type: InheriTest 31208-2
451950 Inheritest Comprehensive 451998 Ethnicity: InheriTest 42784-9
451950 Inheritest Comprehensive 451618 Indication: 42349-1
451950 Inheritest Comprehensive 451845 Comprehensive Result: 53039-4
451950 Inheritest Comprehensive 451613 General Comments: N/A
451950 Inheritest Comprehensive 451616 Additional Clinical Info 55752-0
451950 Inheritest Comprehensive 451384 Comments: 77202-0
451950 Inheritest Comprehensive 451386 Method/Limitations: 49549-9
451950 Inheritest Comprehensive 451614 Information Table 36908-2
451950 Inheritest Comprehensive 451333 Disclaimer: N/A
451950 Inheritest Comprehensive 451612 Director Review: 72486-4
451950 Inheritest Comprehensive 451743 PDF 51969-4

For Providers

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CPT Statement/Profile Statement

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 https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf