Familial Mutation, Targeted Sequencing
2001961
 
Ordering Recommendation
Consultation with a genetics counselor is advised. Order to detect a mutation previously identified in a family member.
Mnemonic
SEQ FSM
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
5-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
Patient Preparation
 
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  
Specimen Preparation
 
Storage/Transport Temperature
 
Unacceptable Conditions
 
Remarks
Testing will begin once all required documentation is received, including a completed patient history form, a control sample from an affected relative and an original laboratory report detailing the familial mutation.  
Stability
 
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
Testing will begin once all required documentation is received, including a completed patient history form, a control sample from an affected relative and an original laboratory report detailing the familial mutation.

This test is available for genes currently sequenced at ARUP.
CPT Code(s)
Contact ARUP for CPT coding of targeted familial variants in genes not listed here.

81221 CFTR; 81293 MLH1; 81296 MSH2; 81318 PMS2; 81299 MSH6; 81303 MECP2; 81202 APC; 81253 GJB2; 81322 PTEN

81403 if one of the following genes is tested: ACADVL, ACADM, BTD, CYP1B1, F8, F9, FBN1, GALT, HBA1, HBA2, HBB, LMNA, MEFV, MEN1, MUTYH, NF1, OTC, PRSS1, PTPN11, RET, SDHB, SDHC, SDHD, SLC25A13,
SPRED1, SOS1, TGFBR1, TGFBR2, UBE3A, VHL, VWF


81479 if one of the following genes is tested: ACVRL1, ASS1, ATP7A, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, G6PD, INSR, MYH3, PLOD1, RASA1, SLC22A5, SMAD4, SPINK1, STK11, TACI
Components
Component Test Code*Component Chart Name
2001962SEQ FSM Specimen
2001963Targeted Sequencing Gene
2001965Targeted Sequencing Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
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)Angelman Syndrome (UBE3A) (Familial Mutation, Targeted Sequencing)
  • ATP7A - Related Copper Transport Disorders (ATP7A) (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)
  • Peutz-Jeghers Syndrome (STK11) (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)
  • TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) (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)