Biomarker Lens

Biomarkers · Chemical

Methods/Limitations

LOINC codes
85069-3
Tests that measure Methods/Limitations
Labcorp 38

Tests

Check the catalog code, specimen, method and preparation for every test that measures Methods/Limitations. Select up to five tests to compare them side by side.

Labcorp 38 tests

Single-analyte tests

  • Ataxia Repeat Expansion Panel 484647

    Blood · Fasting not stated · Turnaround 14 - 21 days

    Method and collection
    Method
    Repeat-primed PCR and fragment length analysis to identify the number of nucleotide repeats
    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

  • Comprehensive Short Stature Genetic Panel 631473

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

  • Congenital Hypothyroidism Genetic Panel 631458

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

  • F9 Invitae Single Gene Diagnostic Test 899733

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Factor XIII Genetic Analysis 631413

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

  • Family Variant and VUS Resolution Testing 898059

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Fibrinogen Genetic Analysis 631428

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

  • GeneSeq® Connective Tissue: Single Gene Analysis 631264

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
    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

  • Invitae Adenomatous Polyposis Panel 899426

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Androgen Insensitivity Panel 900253

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Biotinidase Deficiency Test 906171

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae BRCA1 and BRCA2 Panel 898000

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory
    Labcorp catalog page

  • Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test 900169

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). The number of hexanucleotide repeat units in intron 1 of the C9orf72 gene is assessed by repeat-primed PCR (RP-PCR) with fluorescently labeled primers followed by fragment size analysis of the resulting amplicons via capillary electrophoresis (CE). A secondary round of RP-PCR + CE, utilizing a non-overlapping set of primers to amplify the locus from the opposite direction, is used to confirm the initial call for allele sizes of 22 or more repeat units. This test can accurately (+/-1 repeat unit) determine repeat size up to 31 repeat units (Pathogenic full mutation cut-off), but it is not designed to determine the exact number of repeat units above 31. 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Chronic Pancreatitis Panel 899337

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Common Hereditary Cancers Panel​ 898035

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Congenital Ichthyosis Panel 900326

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Dystrophinopathies Test 900123

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Familial Mediterranean Fever Test 900049

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Breast Cancer Guidelines-based Panel 898023

    Blood · Fasting not stated · Turnaround 10 - 21 days; n some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Breast Cancer Panel 899035

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Colorectal Cancer Guidelines-based Panel 899059

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Colorectal Cancer Panel 899048

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Juvenile Polyposis Syndrome Panel 899202

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Nervous System/Brain Cancer Panel 899147

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Neuroendocrine Tumors and Adrenocortical Carcinoma Panel 899463

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Pancreatic Cancer Panel 899070

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Prostate Cancer Panel 899136

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Renal/Urinary Tract Cancers Panel 899125

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hypophosphatemia Panel 900443

    Blood · Fasting not stated · Turnaround 10-21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Lynch Syndrome Panel 898017

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Multi-Cancer Panel​ 898041

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae NF2 -related Schwannomatosis Test 900557

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Pompe Disease Test 906144

    Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • SHOX Gene Sequencing 631488

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

  • Spinocerebellar Ataxia Repeat Expansion Panel 484648

    Blood · Fasting not stated · Turnaround 14 - 21 days

    Method and collection
    Method
    Repeat-primed PCR and fragment length analysis to identify the number of nucleotide repeats
    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

  • von Willebrand Disease Genetic Analysis 631443

    Blood · Fasting not stated · Turnaround 14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
    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

Panels that include this biomarker

  • Invitae Amyotrophic Lateral Sclerosis Panel 900069

    2 analytes · Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

  • Invitae Hereditary Breast and Gyn Cancers Guidelines-based Panel 898029

    2 analytes · Blood · Fasting not stated · Turnaround 10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.

    Method and collection
    Method
    Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). 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
    Collection
    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
    Labcorp catalog page

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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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