- Patient Preparation
- Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission.
Fetal Specimen: Two T-25 flasks at 80% confluent of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Or amniotic fluid.
AND Maternal Cell Contamination Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- 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: Room temperature.
- Unacceptable Conditions
- Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.
- Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
This test is available for genes currently sequenced at ARUP.
Submit a positive control with the patient specimen for appropriate interpretation. Disease-specific patient history forms are available at www.aruplab.com/Testing-Information/consentforms-patienthistory.jsp
81403 if one of the following genes is tested: ACADVL, ACADM, ASS1, ATP7B, BTD, CYP1B1, F8, F9, FBN1, GALT, HBA1, HBA2, HBB, HEXA, LMNA, MEFV, MEN1, MUTYH, NF1, OTC, PRSS1, PTPN11, RET, SDHB, SDHC, SDHD, SLC25A13, SPRED1, SOS1, STK11, TGFBR1, TGFBR2, TP53, UBE3A, VHL, VWF
81479 if one of the following genes is tested: ACVRL1, AGAT, ASS1, ATP7A, BMP9, BMPR1A, CTRC, EIF2AK4, G6PD, GAMT, GATM, INSR, KMT2D, MYH3, PLOD1, RASA1, SLC22A5, SLC25A13, SLC6A8, TACI
Contact ARUP for CPT coding of targeted familial variants in genes not listed here.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||31208-2|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|2001963||Targeted Sequencing Gene||48018-6|
|2001965||Targeted Sequencing Interpretation||50398-7|
|2001981||SEQ FSM FE Specimen|
- Alpha Globin (HBA1 and HBA2)
- Alport Syndrome, X-linked (COL4A5)
- Angelman Syndrome (UBE3A)
- ATP7A - Related Copper Transport Disorders (ATP7A)
- Beta Globin (HBB)
- CDKL5-Related Disorders
- Cystic Fibrosis (CFTR)
- Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
- Hemophilia A (F8)
- Hemophilia B (F9)
- Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG)
- Hereditary Hemorrhagic Telangiectasia (ACVRL1 or ENG)
- Inherited Insulin Resistance Syndrome (INSR)
- Noonan Syndrome (PTPN11)
- Ornithine Transcarbamylase Deficiency (OTC)
- Peutz-Jeghers Syndrome (STK11)
- RASA1-Related Disorders
- Rett Syndrome (MECP2)
- TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Fetal)