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Familial Mutation, Targeted Sequencing

CPT Code(s): 81202 APC; 81215 BRCA1; 81217 BRCA2; 81221 CFTR; 81253 GJB2; 81293 MLH1; 81296 MSH2; 81299 MSH6; 81303 MECP2; 81318 PMS2; 81322 PTEN; 81402 MEFV 81401 if one of the following genes is tested: ACADM, PRSS1 81403 if one of the following genes is tested: ABCD1, ACADVL, ADPKD, ASS1, ATP7B, BMPR2, BTD, CDKL5, CHD7, COL4A5, CYP1B1, DHCR7, ENG, F8, F9, FBN1, GALT, HBA1, HBA2, HBB, HEXA, LMNA, MEN1, MUTYH, NF1, OTC, PTPN11, RET, SDHA, SDHB, SDHC, SDHD, SLC22A5, SMAD4, SOS1, SPINK1, SPRED1, STK11, TGFBR1, TGFBR2, TP53, UBE3A, VHL, VWF 81479 if one of the following genes is tested: ACVRL1, ATP7A, BMP9, BMPR1A, CTRC, EIF2AK4, G6PD, GAMT, GATM, GLI3, INSR, KMT2D, MYH3, NAA10, PLOD1, RASA1, SLC25A13, SLC6A8, TNFRSF13B Contact RDL for CPT coding of targeted familial variants in genes not listed here.
Specimen Required: Patient Preparation:
Collect:Contact RDL's Client Services at (888) 431-7474 prior to test submission.
Specimen Preparation:
Storage/Transport Temperature:
Stability:
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • 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)
  • 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)
  • 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)
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