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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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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) (Familial Mutation, Targeted Sequencing)
, Alport Syndrome, X-linked (COL4A5) (Familial Mutation, Targeted Sequencing)
, Beta Globin (HBB) (Familial Mutation, Targeted Sequencing)
, Biotinidase Deficiency (BTD) (Familial Mutation, Targeted Sequencing)
, Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1) Sequencing (Familial Mutation, Targeted Sequencing)
, Carnitine Deficiency, Primary (SLC22A5) (Familial Mutation, Targeted Sequencing)
, CDKL5-Related Disorders (CDKL5) Sequencing (Familial Mutation, Targeted Sequencing)
, Cerebral Cavernous Malformation (CCM1) (Familial Mutation, Targeted Sequencing)
, Cerebral Cavernous Malformation (CCM2) (Familial Mutation, Targeted Sequencing)
, Cerebral Cavernous Malformation (CCM3) (Familial Mutation, Targeted Sequencing)
, Connexin 26 (GJB2) (Familial Mutation, Targeted Sequencing)
, Cowden Syndrome (PTEN) Sequencing (Familial Mutation, Targeted Sequencing)
, Cystic Fibrosis (CFTR) (Familial Mutation, Targeted Sequencing)
, Familial Adenomatous Polyposis (APC) Sequencing (Familial Mutation Targeted Sequencing), Familial Mediterranean Fever (MEFV) (Familial Mutation, Targeted Sequencing)
, Freeman-Sheldon Syndrome (MYH3) Exon 17 (Familial Mutation, Targeted Sequencing)
, Galactosemia (GALT) (Familial Mutation, Targeted Sequencing)
, Glaucoma, Primary Congenital (CYP1B1) (Familial Mutation, Targeted Sequencing)
, Hemophilia A (F8) (Familial Mutation, Targeted Sequencing)
, Hemophilia B (F9) (Familial Mutation, Targeted Sequencing)
, Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) (Familial Mutation, Targeted Sequencing)
, HHT (ACVRL1 and ENG) (Familial Mutation, Targeted Sequencing)
, HNPCC/Lynch Syndrome (Familial Mutation, Targeted Sequencing), Juvenile Polyposis (SMAD4) (Familial Mutation, Targeted Sequencing)
, Juvenile Polyposis Syndrome (BMPR1A) Sequencing (Familial Mutation, Targeted Sequencing)
, Laminopathies (LMNA) (Familial Mutation, Targeted Sequencing), Legius Syndrome (SPRED1) and NF1 (Familial Mutation, Targeted Sequencing)
, Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) (Familial Mutation, Targeted Sequencing)
, Lynch Syndrome/HNPCC (MLH1) (Familial Mutation, Targeted Sequencing)
, Lynch Syndrome/HNPCC (MSH2) (Familial Mutation, Targeted Sequencing)
, Lynch Syndrome/HNPCC (MSH6) (Familial Mutation, Targeted Sequencing)
, Lynch Syndrome/HNPCC (PMS2) (Familial Mutation, Targeted Sequencing)
, Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) (Familial Mutation, Targeted Sequencing)
, MEN2 (RET) (Familial Mutation, Targeted Sequencing)
, Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing (Familial Mutation, Targeted Sequencing), Multiple Endocrine Neoplasia Type 2 (RET) (Familial Mutation, Targeted Sequencing)
, Noonan Syndrome (PTPN11) (Familial Mutation, Targeted Sequencing)
, Noonan Syndrome (SOS1) (Familial Mutation, Targeted Sequencing)
, Ornithine Transcarbamylase Deficiency (OTC) Sequencing (Familial Mutation, Targeted Sequencing), Pancreatitis, Hereditary (PRSS1) (Familial Mutation, Targeted Sequencing)
, Pancreatitis, Idiopathic (SPINK1) (Familial Mutation, Targeted Sequencing)
, Parkes-Weber Syndrome (RASA1) Sequencing (Familial Mutation, Targeted Sequencing)
, PTEN-Related Disorders (PTEN) (Familial Mutation, Targeted Sequencing)
, Pulmonary Arterial Hypertension (BMPR2) (Familial Mutation, Targeted Sequencing)
, RASA1-Related Disorders (RASA1) (Familial Mutation, Targeted Sequencing)
, Rett Syndrome (MECP2) (Familial Mutation, Targeted Sequencing)
, SMAD (Familial Mutation, Targeted Sequencing)
, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) (Familial Mutation, Targeted Sequencing)
, von-Hippel-Lindau (VHL) (Familial Mutation, Targeted Sequencing), Whistling Face Syndrome (MYH3) Sequencing, (Familial Mutation, Targeted Sequencing) |
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