Familial Mutation, Targeted Sequencing, Fetal
Ordering Recommendation
Consultation with a genetics counselor is advised. Order for fetal testing to detect a previously characterized mutation in a family member.
Polymerase Chain Reaction/Sequencing
5-10 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
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  
Reference Interval
By report  
Interpretive Data
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Documentation of the familial gene mutation(s) is required to perform targeted sequencing. Submit a copy of a relative's laboratory test report documenting the gene and specific mutation(s) for which testing is requested.

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
CPT Code(s)
Contact ARUP for CPT coding of targeted familial variants in genes not listed here.

81265 Fetal Cell Contamination

81221 CFTR;  81293 MLH1; 81296 MSH2; 81318 PMS2; 81299 MSH6; 81303 MECP2; 81202 APC; 81253 GJB2; 81322 PTEN

81403 if one of the following genes is tested: ACADVL, ACADM, BTD, CYP1B1, F8, F9, FBN1, GALT, HBA1, HBA2, HBB, LMNA, MEFV, MEN1, MUTYH, NF1, OTC, PRSS1, PTPN11, RET, SDHB, SDHC, SDHD, SLC25A13,

81479 if one of the following genes is tested:  ACVRL1, ASS1, ATP7A, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, G6PD, INSR, MYH3, PLOD1, RASA1, SLC22A5, SMAD4, SPINK1, STK11, TACI
Component Test Code*Component Chart Name
0050548Maternal Cell Contamination, Fetal Spec
0050612Maternal Cell Contam, Maternal Spec
2001963Targeted Sequencing Gene
2001965Targeted Sequencing Interpretation
2001981SEQ FSM FE Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • 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)