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
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
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.
By report
Refer to report.
Laboratory Developed Test (LDT)
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.
CPT codes vary based on gene
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2001962 | SEQ FSM Specimen | 31208-2 |
2001963 | Targeted Sequencing Gene | 48018-6 |
2001965 | Targeted Sequencing Interpretation | 50398-7 |
- 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)