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Labcorp Oklahoma, Inc.
Test Directory


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Inheritest(R) CF/SMA Panel

Order Name CF/SMA WB Panel
Test Number: 5194938
Revision Date 03/21/2023
Test Name Methodology LOINC Code
Inheritest(R) CF/SMA Panel
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
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