ARUP's Laboratory Test Directory

Familial Mutation, Targeted Sequencing, Fetal : 2001980
[ image for: Patient History for Fetal Molecular Testing]
Patient History for Fetal Molecular Testing
  


Mnemonic: SEQ FSM FE

Ordering Recommendation: Consultation with a genetics counselor is advised. Order for fetal testing to detect a previously characterized mutation in a family member.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: 5-10 days
Specimen Required: Collect: 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.

Remarks: Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

Stability (collection to initiation of testing): 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
Note: 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): This test is available for genes currently sequenced at ARUP. For Familial Mutation testing:
81403 if one of the following genes is tested: ACADVL, ACADM, APC, BTD, CFTR, CYP1B1, F8, F9, GALT, GBJ2, HBA1, HBA2, HBB, LMNA, MECP2, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, OTC, PMS2, PRSS1, PTEN, PTPN11, RET, SLC25A13, SPRED1, SOS1, TGFBR1, TGFBR2, VHL

81479 if one of the following genes is tested:
ACVRL1, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, INSR, MYH3, RASA1, SLC22A5, SMAD4, SPINK1

Fetal Cell Contamination (FCC): 81265
Cross References: Alpha Globin (HBA1 and HBA2) (Familial Mutation, Targeted Sequencing, Fetal) , Alport Syndrome, X-linked (COL4A5) (Familial Mutation, Targeted Sequencing, Fetal) , Angelman Syndrome (UBE3A) (Familial Mutation, Targeted Sequencing, Fetal), Beta Globin (HBB) (Familial Mutation, Targeted Sequencing, Fetal) , CDKL5-Related Disorders (Familial Mutation, Targeted Sequencing, Fetal);, Cystic Fibrosis (CFTR) (Familial Mutation, Targeted Sequencing, Fetal) , Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) (Familial Mutation, Targeted Sequencing, Fetal), Hemophilia A (F8) (Familial Mutation, Targeted Sequencing, Fetal) , Hemophilia B (F9) (Familial Mutation, Targeted Sequencing, Fetal) , Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) (Familial Mutation, Targeted Sequencing, Fetal) , Hereditary Hemorrhagic Telangiectasia (ACVRL1 or ENG) (Familial Mutation, Targeted Sequencing, Fetal, Inherited Insulin Resistance Syndrome (INSR) (Familial Mutation, Targeted Sequencing), Noonan Syndrome (PTPN11) (Familial Mutation, Targeted Sequencing, Fetal) , Ornithine Transcarbamylase Deficiency (OTC) (Familial Mutation, Targeted Sequencing, Fetal, RASA1-Related Disorders (Familial Mutation, Targeted Sequencing, Fetal), Rett Syndrome (MECP2) (Familial Mutation, Targeted Sequencing, Fetal)