Biomarker Lens

Common biomarkers

  • Hemoglobin
  • Glucose
  • ALT
  • Apolipoprotein B
  • C-Reactive Protein, Cardiac
  • Ferritin
  • Alb/Creat Ratio, Urine
  • Alkaline Phosphatase
  • FSH
  • T4,Free(Direct)

Biomarkers · Chemical

SMN2 Copy Number Reflex

LOINC codes
54449-7
Tests that measure SMN2 Copy Number Reflex
Labcorp 1

Tests

Check the catalog code, specimen, method and preparation for every test that measures SMN2 Copy Number Reflex. Select up to five tests to compare them side by side.

Labcorp 1 test

Single-analyte tests

  • Spinal Muscular Atrophy (SMA) 481630

    Blood · Fasting not stated · Turnaround 8 - 14 days (In some cases, additional time may be required for confirmatory or reflex tests.)

    Method and collection
    Method
    Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR); reflex testing to SMN2 copy number analysis is performed for individuals with 0 copies of SMN1. 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).
    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 minutes prior to collection.
    Labcorp catalog page

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Sources

Verify these ranges and sources

We compile this page from named laboratory catalogs, guidelines and studies. Labs calculate reference intervals from the people they test, for one assay method and one population group, so an interval describes that population rather than an optimal target.

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