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