Reference Interval:
By report
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| Interpretive Data: |
Refer to report.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| Note: |
Documentation of the familial gene mutation(s) is required to perform targeted sequencing. Submit a copy of a relative's laboratory test report which documents the gene and specific mutation(s) for which testing is requested.
This test is available for genes currently sequenced at ARUP.
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| CPT Code(s): |
83891 Isolation; 83898 Amplification; 83904 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. Add the following for each additional mutation: 83898 Amplification; 83904 Sequencing - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
Alpha Globin (HBA1 and HBA2) Sequencing, Familial Mutation
, Alpha Thalassemia (HBA1 and HBA2) Sequencing, Familial Mutation
, Alport Syndrome, X-linked (COL4A5) Sequencing, Familial Mutation
, Beta Globin (HBB) Sequencing, Familial Mutation
, Biotinidase Deficiency (BTD) Sequencing, Familial Mutation
, Carnitine Deficiency, Primary (SLC22A5) Sequencing, Familial Mutation
, Connexin 26 (GJB2), Sequencing, Familial Mutation
, Cystic Fibrosis (CFTR) Sequencing, Familial Mutation
, Galactosemia (GALT) Sequencing, Familial Mutation
, Glaucoma, Primary Congenital (CYP1B1) Sequencing, Familial Mutation
, Hemophilia A (F8) Sequencing, Familial Mutation
, Hemophilia B (F9) Sequencing, Familial Mutation
, Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing, Familial Mutation
, HHT (ACVRL1 and ENG) Sequencing, Familial Mutation
, HNPCC/Lynch Syndrome, Familial Mutation, Targeted Sequencing
, Juvenile Polyposis (SMAD4) Sequencing, Familial Mutation
, Lynch Syndrome/HNPCC (MLH1) Sequencing, Familial Mutation
, Lynch Syndrome/HNPCC (MSH2) Sequencing, Familial Mutation
, Lynch Syndrome/HNPCC (MSH6) Sequencing, Familial Mutation
, Lynch Syndrome/HNPCC (PMS2) Sequencing, Familial Mutation
, Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing, Familial Mutation
, MEN2 (RET) Sequencing, Familial Mutation
, Multiple Endocrine Neoplasia Type 2 (RET) Sequencing, Familial Mutation
, Noonan Syndrome (PTPN11) Sequencing, Familial Mutation
, Pancreatitis, Hereditary (PRSS1) Sequencing, Familial Mutation
, Pancreatitis, Idiopathic (SPINK1) Sequencing, Familial Mutation
, PTEN-Related Disorders (PTEN) Sequencing, Familial Mutation
, Rett Syndrome (MECP2), Full Gene Sequencing, Familial Mutation
, SMAD4 Sequencing, Familial Mutation, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing, Familial Mutation
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