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

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.

Refer to Statement C under Testing Information at http://www.aruplab.com.
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): 83891 Isolation; 83898 Amplification; 83904 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report.  Add the following for each additional mutation: 83898 Amplification; 83904 Sequencing.  FCC: 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis. If MCC Maternal Cell (0050608) is performed, add: 83891 Isolation; 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
Cross References: Alpha Globin (HBA1 and HBA2) (Familial Mutation, Targeted Sequencing, Fetal) , Alport Syndrome, X-linked (COL4A5) (Familial Mutation, Targeted Sequencing, Fetal) , Beta Globin (HBB) (Familial Mutation, Targeted Sequencing, Fetal) , Carnitine Deficiency, Primary (SLC22A5) (Familial Mutation, Targeted Sequencing, Fetal) , Connexin 26 (GJB2) (Familial Mutation, Targeted Sequencing, Fetal) , Cystic Fibrosis (CFTR) (Familial Mutation, Targeted Sequencing, Fetal) , Galactosemia (GALT) (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) , HHT (ACVRL1 and ENG) (Familial Mutation, Targeted Sequencing, Fetal) , Noonan Syndrome (PTPN11) (Familial Mutation, Targeted Sequencing, Fetal) , Rett Syndrome (MECP2) (Familial Mutation, Targeted Sequencing, Fetal) , Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) (Familial Mutation, Targeted Sequencing, Fetal)
 
 

 

 

 
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