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HelpTest Code IH14G / 481797-LC Inheritest 14-gene Panel
Additional Codes
| Software | Test Code |
|---|---|
| SoftID | IH14G |
| EPIC | LAB20629 |
| Integrated Genetics | 481797 |
Performing Laboratory
Integrated Genetics (LabCorp Specialty Testing Group)
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.
Testing includes carrier screening for 14 genes, including genes for fragile X carrier syndrome and spinal muscular atrophy (SMA). This test includes the following genes: ASPA, BLM, CFTR, ELP1, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, MCOLN1, SMN1 and SMPD1.
Method Name
Next-generation sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.
Report Available
14-21 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
ACD-A Yellow Top Tube – ACD-B solution Yellow Top Tube NOT acceptable.
Preferred Volume
Whole Blood: 8.5 mL (ACD-A Yellow Top Tube)
Whole Blood: 8.5 mL (Lavender Top Tube (EDTA))
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.
Ideally, specimens should be submitted to performing reference laboratory within 48 hours of collection to account for shipping time.
Specimen Stability Information
Specimen Type: Whole Blood
Frozen: Unacceptable
Refrigerated: 4 Days
Room Temp: 4 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 |
Keywords
Pan-ethnic Carrier Screening
Clinical Significance
Next-generation sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.
Rejection Information
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw
Acceptable Alternative Container(s)
ACD-A Yellow Top Tube – Yellow-top (ACD-B) tube is NOT acceptable.
Specimen Minimum Volume
3 mL