Inheritest(R) CF/SMA Panel
Order Name
CF/SMA WB Panel
Test Number: 5194938
Revision Date 03/21/2023
Test Number: 5194938
Revision Date 03/21/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
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Inheritest(R) CF/SMA Panel
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See Test Notes |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 8.5 mL (3 mL) | Whole Blood | ACD Solution A or B (Yellow Top) | Room Temperature |
| Alternate 1 | 8.5 mL (3 mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Alternate 2 | 1 | Saliva | Oragene Dx saliva kit | Room Temperature |
| Alternate 3 | 1 | Buccal swab | PurFlock buccal swab kit | Room Temperature |
| Instructions | Specimen Type: Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Specimen Volume: 8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Mininum Volume: 3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Collection: Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 min prior to collection. Specimen Storage: Maintain specimen at room temperature or refrigerate at 4C Do not freeze. Special Instructions: In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis, test code 482552. Test orders must include an attestation that the provider has the patient's informed consent for genetic |
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| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 14 - 21 days In some cases, additional time may be required for confirmatory or reflex tests. |
| Performing Labcorp Test Code | 481758 |
| Notes | Labcorp Test Code: 481758 Methodology Cystic fibrosis: Next-generation sequencing to identify 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). |
| Lab Section | Reference Lab |