Familial Mutation, Targeted Sequencing
Ordering Recommendation

Recommended test for a known familial sequence variant previously identified in a family member. A copy of the family member’s test result documenting the familial variant is required. Consultation with a genetic counselor is advised.

Polymerase Chain Reaction/Sequencing
Sun- Sat
21-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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 
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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: APC, BRCA1, BRCA2, CFTR, G6PD, GJB2, HBA1/HBA2, MLH1, MSH2, MSH6, MECP2, PMS2, PTEN, HBB, MEFV, ACADM, PRSS1, and known familial variants.
Hotline History
CPT Code(s)
81202 APC; 81215 BRCA1; 81217 BRCA2; 81221 CFTR; 81248 G6PD; 81253 GJB2; 81258 HBA1/HBA2; 81293 MLH1; 81296 MSH2; 81299 MSH6; 81303 MECP2; 81318 PMS2; 81322 PTEN; 81362 HBB; 81402 MEFV
81401 if one of the following genes is tested: ACADM, PRSS1
81403 for known familial variant not otherwise specified, for each variant exon.
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.
  • Adrenoleukodystrophy, X-Linked (ABCD1)
  • 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)
  • Breast and Ovarian Cancer Syndrome (BRCA1 and BRCA2)
  • Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1) Sequencing
  • Carnitine Deficiency, Primary (SLC22A5)
  • CDKL5-Related Disorders (CDKL5) Sequencing
  • CHARGE Syndrome (CHD7)
  • Connexin 26 (GJB2)
  • Cowden Syndrome (PTEN) Sequencing
  • Cystic Fibrosis (CFTR)
  • Familial Mediterranean Fever (MEFV)
  • Familial Transthyretin Amyloidosis (TTR) Sequencing
  • Freeman-Sheldon Syndrome (MYH3) Exon 17
  • Galactosemia (GALT)
  • Glaucoma, Primary Congenital (CYP1B1)
  • GLI3-Related Disorders (GLI3)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHA)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHB)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHC)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHD)
  • HNPCC/Lynch Syndrome (PMS2)
  • Inherited Insulin Resistance Syndrome (INSR) Sequencing
  • Juvenile Polyposis (SMAD4)
  • Juvenile Polyposis Syndrome (BMPR1A)
  • Laminopathies (LMNA)
  • Legius Syndrome (SPRED1) and NF1
  • Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing
  • 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)
  • Multiple Endocrine Neoplasia Type 2 (RET)
  • MUTYH-Assoicated Polyposis (MUTYH)
  • Neurofibromatosis Type 1 (NF1)
  • Noonan Syndrome (PTPN11)
  • Noonan Syndrome (SOS1)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Pancreatitis (CTRC)
  • Pancreatitis, Hereditary (PRSS1)
  • Pancreatitis, Idiopathic (SPINK1)
  • Parkes-Weber Syndrome (RASA1) Sequencing
  • Peutz-Jeghers Syndrome (STK11)
  • Polycystic Kidney Disease, Autosomal Dominant (PKD1and PKD2)
  • PTEN-Related Disorders (PTEN)
  • Pulmonary Arterial Hypertension (BMPR2)
  • RASA1-Related Disorders (RASA1)
  • RET Gene Familial Mutation
  • Rett Syndrome (MECP2)
  • Smith-Lemli-Opitz Syndrome (DHCR7)
  • 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), (Familial Mutation, Targeted Sequencing)
  • Wilsons Disease (ATP7B)