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Inheritest® Gene-specific Sequencing, NGS
- Follow-up Gene Sequencing
- Partner Gene Sequencing
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.
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).
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).
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.
10 mL whole blood
Maintain specimen at room temperature or refrigerate at 4°C.
Causes for Rejection
Frozen specimen; 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|
|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||51969-4|