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.
ARUP Consult®
Disease Topics
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.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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
CPT Code(s)
Contact ARUP for CPT coding of targeted familial variants in genes not listed here. 81265 Fetal Cell Contamination 81202 APC;  81221 CFTR;  81253 GJB2; 81293 MLH1; 81296 MSH2; 81299 MSH6; 81303 MECP2; 81318 PMS2; 81322 PTEN

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 NameLOINC
0050548Maternal Contamination Study Fetal Spec31208-2
0050612Maternal Contam Study, Maternal Spec31208-2
2001963Targeted Sequencing Gene48018-6
2001965Targeted Sequencing Interpretation50398-7
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)