Familial Mutation, Targeted Sequencing

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Familial Mutation, Targeted Sequencing : 2001961

Patient History for Family Specific Mutation Testing

Mnemonic: SEQ FSM

Ordering Recommendation:	Consultation with a genetics counselor is advised. Order to detect a mutation previously identified in a family member.
Methodology:	Polymerase Chain Reaction/Sequencing
Performed:	Varies
Reported:	5-28 days
Specimen Required:	Collect: Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission. Disease-specific patient history forms are available at www.aruplab.com/Testing-Information/consentforms-patienthistory.jsp

Reference Interval: By report
Interpretive Data:	Refer to report. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. See Compliance Statement C: www.aruplab.com/CS
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.
CPT Code(s):	This test is available for genes currently sequenced at ARUP. For Familial Mutation testing: 81403 if one of the following genes is tested: ACADVL, ACADM, APC, BTD, CFTR, CYP1B1, F8, F9, GALT, GBJ2, HBA1, HBA2, HBB, LMNA, MECP2, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, OTC, PMS2, PRSS1, PTEN, PTPN11, RET, SLC25A13, SPRED1, SOS1, TGFBR1, TGFBR2, VHL 81479 if one of the following genes is tested: ACVRL1, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, INSR, MYH3, RASA1, SLC22A5, SMAD4, SPINK1
Cross References:	Alpha Globin (HBA1 and HBA2) (Familial Mutation, Targeted Sequencing) , Alport Syndrome, X-linked (COL4A5) (Familial Mutation, Targeted Sequencing) , Angelman Syndrome (UBE3A) (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) , Citrin Deficiency (SLC25A13) Sequencing (Familial Mutation, Targeted Sequencing), Citrullinemia, Type I (ASS1) (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) , Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) (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) , Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) (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) , Hereditary Hemorrhagic Telangiectasia (ACVRL1 or ENG) (Familial Mutation, Targeted Sequencing), Hereditary Paraganglioma-Pheochromocytoma (SDHB), Hereditary Paraganglioma-Pheochromocytoma (SDHC), Hereditary Paraganglioma-Pheochromocytoma (SDHD), HNPCC/Lynch Syndrome (Familial Mutation, Targeted Sequencing), Inherited Insulin Resistance Syndrome (INSR) Sequencing (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) , Marfan Syndrome (FBN1) (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) , MUTYH-Assoicated Polyposis (MUTYH) Sequencing (Familial Mutation, Targeted Sequencing), Neurofibromatosis Type 1 (NF1) (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) , RET Gene Familial Mutation (Familial Mutation, Targeted Sequencing) , Rett Syndrome (MECP2) (Familial Mutation, Targeted Sequencing) , Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) (Familial Mutation, Targeted Sequencing) , von Willebrand Disease, Platelet Type (GP1BA) (Familial Mutation, Targeted Sequencing), von Willebrand Disease, Type 2A, 2B, 2M, or 2N (VWF) (Familial Mutation, Targeted Sequencing), von-Hippel-Lindau (VHL) (Familial Mutation, Targeted Sequencing), Whistling Face Syndrome (MYH3) Sequencing, (Familial Mutation, Targeted Sequencing)