Inheritest® Gene-specific Sequencing, NGS

CPT: Call client services.
Updated on 7/30/2018
Print Share

Test Details

Synonyms

  • Follow-up Gene Sequencing
  • Partner Gene Sequencing

Test Includes

Full gene sequencing for any one of the following genes: 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.

Associated diseases include: Abetalipoproteinemia; Adenosine deaminase deficiency; Alphamannosidosis; Alport syndrome; Andermann syndrome; Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin E deficiency; Ataxia-telangiectasia; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); Bardet-Biedl syndrome; Beta hemoglobinopathies, includes sickle cell disease and beta thalassemias; Beta-mannosidosis; Bloom syndrome; Canavan disease; Carbamoyl phosphate synthetase I deficiency; Carnitine palmitoyltransferase II deficiency; Carnitine-acylcarnitine translocase deficiency; Cartilage-hair hypoplasia; Citrullinemia type I; Cobalamin C disease; Cohen syndrome; Congenital amegakaryocytic thrombocytopenia; Congenital disorder of glycosylation type 1a; Cystic fibrosis; Cystinosis; D-bifunctional protein deficiency; Dihydrolipoamide dehydrogenase deficiency; Dihydropyrimidine dehydrogenase deficiency; Ehlers-Danlos syndrome type VIIC; Ethylmalonic encephalopathy; Familial dysautonomia; Familial hyperinsulinism,; Familial Mediterranean fever; Fanconi anemia group C; Fragile X syndrome; Fucosidosis; Galactosemia; Galactosialidosis; Gaucher disease; Glutaric acidemia type 1; Glutathione synthetase deficiency; Glycine encephalopathy; Glycogen storage disease type Ia; Glycogen storage disease type Ib; Glycogen storage disease type III; GM1 gangliosidosis and mucopolysaccharidosis type IVB; GRACILE syndrome; Guanidinoacetate methyltransferase deficiency; Hereditary fructose Intolerance; HMGCoA lyase deficiency; Holocarboxylase synthetase deficiency,; Homocystinuria; Hypophosphatasia, autosomal recessive; Joubert syndrome 2; Junctional epidermolysis bullosa; Krabbe disease; Leigh syndrome, autosomal recessive; Leigh syndrome, French Canadian type; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Maple syrup urine disease type 1A; Maple syrup urine disease type 1B; Medium-chain acyl-CoA dehydrogenase deficiency; Metachromatic leukodystrophy; Methylmalonic acidemia; Mucopolysaccharidosis type IIIA,; Mucopolysaccharidosis type IIIB; Mucopolysaccharidosis type IIIC; Mucopolysaccharidosis type IIID; Mucopolysaccharidosis type IV A; Mucopolysaccharidosis type VI; Mucopolysaccharidosis type VII; Multiple sulphatase deficiency; Nemaline myopathy; Nephrotic syndrome; Nephrotic syndrome, Finnish type; Neuronal ceroid-lipofuscinosis; Niemann-Pick disease type C; Niemann-Pick disease types A and B; Nijmegen breakage syndrome; Ornithine transcarbamylase deficiency; Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU); Phosphoglycerate dehydrogenase deficiency; Polycystic kidney disease, autosomal recessive; Pompe disease; Primary hyperoxaluria type 1; Primary hyperoxaluria type 2; Propionic acidemia; Pyruvate dehydrogenase deficiency; Retinitis pigmentosa 59; Rhizomelic chondrodysplasia punctata type 1; Salla disease; Sandhoff disease; Sialidosis; Sjogren-Larsson syndrome; Smith-Lemli-Opitz syndrome; Spinal muscular atrophy; Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia; Systemic primary carnitine deficiency; Tay-Sachs disease; Tyrosinemia type 1; Usher syndrome type IF; Usher syndrome type IIIA,; Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD); Walker-Warburg syndrome; Wilson disease; Xeroderma pigmentosum; X-linked severe combined Immunodeficiency (SCID); Zellweger spectrum disorder.

Use

Full gene sequencing is available for all the genes included in the Inheritest® NGS panels. See related Inheritest® test codes: Inheritest® Comprehensive, NGS (451950); or Inheritest® Ashkenazi Jewish Carrier Screening, NGS (451920); or Inheritest® Society-guided Screening, NGS (451960).

Limitations

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 LabCorp. 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 the Illumina® next-generation sequencing (NGS) platform. Regions of interest include all exons and splice junctions for each gene analyzed. Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Greater than 98% of target bases are covered at ≥20x coverage. Analytical sensitivity for this assay is estimated to be >99%. The clinical significance of variants is assessed according to a proprietary algorithm. Variants known to be benign are not reported. Reported variants are confirmed by Sanger sequencing and described using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS). Detailed variant scoring information is available on request.

Specimen Requirements

Specimen

Whole blood

Volume

10 mL whole blood

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; 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.

Indicate the specific gene(s) to be analyzed on the test request form. Failure to indicate the gene(s) will result in testing delays.

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.

<.

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.

<p>Indicate the specific gene(s) to be analyzed on the test request form. Failure to indicate the gene(s) will result in testing delays.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451910 Gene Specific Sequencing 450001 Genetic Counselor: N/A
451910 Gene Specific Sequencing 450003 Specimen Type: 31208-2
451910 Gene Specific Sequencing 452027 Fetus ID 11951-1
451910 Gene Specific Sequencing 450006 Ethnicity: 42784-9
451910 Gene Specific Sequencing 481434 Indication 42349-1
451910 Gene Specific Sequencing 451902 Result: 48003-8
451910 Gene Specific Sequencing 481435 General Comments: 8262-8
451910 Gene Specific Sequencing 481436 Additional Clinical Info 55752-0
451910 Gene Specific Sequencing 481437 Comments: 8251-1
451910 Gene Specific Sequencing 481438 Method/Limitations: 49549-9
451910 Gene Specific Sequencing 481440 Disclaimer: 62364-5
451910 Gene Specific Sequencing 481442 Director Review: 72486-4
451910 Gene Specific Sequencing 481441 PDF 51969-4

For Providers

Please login to order a test.

 

© 2018  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

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