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Results: 1 to 20 of 127

Tests names and labsConditionsGenes, analytes, and microbesMethods

SMA Carrier by Del/Dup

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis

Spinal Muscular Atrophy (SMA) Dosage Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
12
  • X Mutation scanning of select exons

SMN1 Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

SMA Diagnostic by Del/Dup

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis

Spinal muscular atrophy type 1 (SMN1 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Survival motor neuron 1 (SMN1) and 2 (SMN2) gene dosage evaluation by MLPA analysis

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • D Deletion/duplication analysis

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening CF+SMA

Ambry Genetics
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMA Diagnostic Test

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
12
  • D Deletion/duplication analysis

Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

Variantyx, Inc.
United States
14118
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

UNITY Carrier Screen

BillionToOne
United States
165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Core Carrier Screen without X-linked Disorders

Invitae
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Core Carrier Screen

Invitae
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Spinal Muscular Atrophy STAT Panel

Invitae
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy

Myriad Genetics, Inc.
United States
11
  • T Targeted variant analysis

SMN1/SMN2 Copy Number Analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA), Fetus

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
12
  • D Deletion/duplication analysis

SMA Carrier Screen

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
12
  • T Targeted variant analysis

Results: 1 to 20 of 127

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.