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Test Code 14GCP / 898099-LC Labcorp 14-gene Carrier Panel

Additional Codes

Software Test Code
SoftID                                                  14GCP                                                                   
EPIC LAB9491
Labcorp Laboratories  898099

Performing Laboratory

LabCorp Labotatories 

Clinical Significance

Next-generation sequencing: identifies genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).  

Fragile X syndrome: cytosine-guanine-guanine (CGG) triplet repeats in the 5' untranslated region (5' UTR) of the FMR1 gene are detected by triplet repeat-primed PCR (RP-PCR) with fluorescently labeled primers followed by capillary electrophoresis.

Confirmation of the presence and location of reportable variants is performed as needed based on stringent criteria using one of several validated orthogonal approaches.1

Useful For

This test is used for pan-ethnic carrier screening and includes disorders listed in the American College of Obstretricians and Gynecologists' (ACOG) recommendations.

 

This test features carrier screening for 14 genes, including genes for cystic fibrosis (CF),  fragile X carrier syndrome and spinal muscular atrophy (SMA). This test includes the following genes: ASPA, BLM, CFTR, ELP1, FANCC, FMR1, GBA1 (GBA), HBA1, HBA2, HBB, HEXA, MCOLN1, SMN1 and SMPD1.

Method Name

Next-generation sequencing: identifies genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).  

Fragile X syndrome: cytosine-guanine-guanine (CGG) triplet repeats in the 5' untranslated region (5' UTR) of the FMR1 gene are detected by triplet repeat-primed PCR (RP-PCR) with fluorescently labeled primers followed by capillary electrophoresis.

Confirmation of the presence and location of reportable variants is performed as needed based on stringent criteria using one of several validated orthogonal approaches.1

Report Available

10-21 Days (In some cases, additional time may be required for confirmatory or reflex tests.)

Analytic time for send out tests is the time it will take to perform testing once it has arrived at the performing reference lab. Please add 1 to 2 days from time of collection to allow for receipt at NorDx central lab and shipment of specimen, add another day if specimen is collected on the day before a weekend or holiday.

Specimen Type

Whole Blood

Preferred Container

Lavender Top Tube (EDTA)

Preferred Volume

Whole Blood: 4 mL 

Specimen Collection and Handling

Specimens must be accompanied by a completed Consent for Genetic Testing form. The consent form may be found at https://labcorpdata.s3.amazonaws.com/stage-wwwd8/inline-files/L7832-0717-5.pdf.

Specimen Stability Information

Specimen Type: Whole Blood

Frozen: Unacceptable

Refrigerated: 90 Days

Room Temp: 90 Days

Add On Capable

Not Permitted

CPT Code Information

CPT Code

CPT Description

CPT Disclaimer
81200 Aspa Gene  
81209 Blm Gene  
81220 Cftr gene com variants  
81242 Fancc gene  
81243 Fmr1 gene detection  
81251 Gba gene  
81255 Hexa gene  
81257 Hba1/hba2 gene  
81260 Ikbkap gene  
81290 Mcoln1 gene  
81329 Smn1 gene dos/deletion alys  
81330 Smpd1 gene common variants  
81361 Hbb gene com variants  

Rejection Information

Frozen or hemolyzed specimen; quantity not sufficient for analysis or in improper container; specimen from an individual who has undergone allogeneic bone marrow transplant

Keywords

Pan-ethnic Carrier Screening

Specimen Minimum Volume

3 mL