U.S. flag

An official website of the United States government

GTR Home > Tests > Spinal Muscular Atrophy (SMA)

Overview

Test order codeHelp: 3300595

Test name

Help

Spinal Muscular Atrophy (SMA) (SMA)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis, Pre-symptomatic, Risk Assessment, Screening

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Not provided

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Peripheral (whole) blood
Skin

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Thermo Applied Biosystem 3500XL DNA Sequencing System
  • Other

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Test services

Help
  • Custom Prenatal Testing, Order code: 3300595-P, 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)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.