Familial Mutation, Targeted Sequencing, Fetal
| CPT Code(s): | 81265 Fetal Cell Contamination; 81202 APC; 81215 BRCA1; 81217 BRCA2; 81221 CFTR; 81253 GJB2; 81281 LQTS; 81402 MEFV 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:Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluent of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete. OR Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood. (Min: 1 mL) Storage/Transport Temperature:Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells. Amniotic fluid: Room temperature. Maternal Cell Contamination Specimen: Refrigerated Stability:Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable |
| New York DOH Approval Status: | Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible. |
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