Familial Mutation, Targeted Sequencing
Ordering Recommendation
Consultation with a genetics counselor is advised. Order to detect a mutation previously identified in a family member.
Polymerase Chain Reaction/Sequencing
5-28 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
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
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.  
Reference Interval
By report  
Interpretive Data
Refer to report.

See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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,

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
Component Test Code*Component Chart NameLOINC
2001962SEQ FSM Specimen31208-2
2001963Targeted Sequencing Gene48018-6
2001965Targeted Sequencing Interpretation50398-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Alpha Globin (HBA1 and HBA2)
  • Alport Syndrome, X-linked (COL4A5)
  • Angelman Syndrome (UBE3A) (Familial Mutation, Targeted Sequencing)Angelman Syndrome (UBE3A)
  • ATP7A-Related Copper Transport Disorders (ATP7A)
  • Beta Globin (HBB)
  • Biotinidase Deficiency (BTD)
  • Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1) Sequencing
  • Carnitine Deficiency, Primary (SLC22A5)
  • CDKL5-Related Disorders (CDKL5) Sequencing
  • Cerebral Cavernous Malformation (CCM1)
  • Cerebral Cavernous Malformation (CCM2)
  • Cerebral Cavernous Malformation (CCM3)
  • Citrin Deficiency (SLC25A13) Sequencing
  • Citrullinemia, Type I (ASS1)
  • Connexin 26 (GJB2)
  • Cowden Syndrome (PTEN) Sequencing
  • Cystic Fibrosis (CFTR)
  • Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1)
  • Familial Adenomatous Polyposis (APC) Sequencing
  • Familial Mediterranean Fever (MEFV)
  • Freeman-Sheldon Syndrome (MYH3) Exon 17
  • Galactosemia (GALT)
  • Glaucoma, Primary Congenital (CYP1B1)
  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG)
  • Hereditary Hemorrhagic Telangiectasia (ACVRL1 or ENG)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHB)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHC)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHD)
  • HNPCC/Lynch Syndrome
  • Inherited Insulin Resistance Syndrome (INSR) Sequencing
  • Juvenile Polyposis (SMAD4)
  • Juvenile Polyposis Syndrome (BMPR1A) Sequencing
  • Laminopathies (LMNA)
  • Legius Syndrome (SPRED1) and NF1
  • Loeys-Dietz Syndrome (TGFBR1 & TGFBR2)
  • Lynch Syndrome/HNPCC (MLH1)
  • Lynch Syndrome/HNPCC (MSH2)
  • Lynch Syndrome/HNPCC (MSH6)
  • Lynch Syndrome/HNPCC (PMS2)
  • Marfan Syndrome (FBN1)
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
  • MEN2 (RET)
  • Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
  • Multiple Endocrine Neoplasia Type 2 (RET)
  • MUTYH-Assoicated Polyposis (MUTYH) Sequencing
  • Neurofibromatosis Type 1 (NF1)
  • Noonan Syndrome (PTPN11)
  • Noonan Syndrome (SOS1)
  • Ornithine Transcarbamylase Deficiency (OTC) Sequencing
  • Pancreatitis, Hereditary (PRSS1)
  • Pancreatitis, Idiopathic (SPINK1)
  • Parkes-Weber Syndrome (RASA1) Sequencing
  • Peutz-Jeghers Syndrome (STK11)
  • PTEN-Related Disorders (PTEN)
  • Pulmonary Arterial Hypertension (BMPR2)
  • RASA1-Related Disorders (RASA1)
  • RET Gene Familial Mutation
  • Rett Syndrome (MECP2)
  • TACI-Associated Common Variable Immunodeficiency (TNFRSF13B)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
  • von Willebrand Disease, Platelet Type (GP1BA)
  • von Willebrand Disease, Type 2A, 2B, 2M, or 2N (VWF)
  • von-Hippel-Lindau (VHL)
  • Whistling Face Syndrome (MYH3) Sequencing, (Familial Mutation, Targeted Sequencing)