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GTR Home > Tests > SMA Carrier by Del/Dup

Overview

Test order codeHelp: SMNCS

Test name

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SMA Carrier by Del/Dup (SMNCS)

Purpose of the test

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This is a clinical test intended for Help: Mutation Confirmation, Recurrence, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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https://www.mayocliniclabs.com/test-catalog/Specimen/65574
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Dried blood spot (DBS) card
Fibroblasts
Peripheral (whole) blood
Skin

Methodology

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Molecular Genetics
DDeletion/duplication analysis
droplet digital PCR

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Reproductive decision-making

Citations

Clinical validity

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Not provided

Citations

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: FMTT, comments

Clinical resources

Practice guidelines

  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020
  • ACMG ACT, 2018
    ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)

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