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Results: 1 to 20 of 218

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 - I, II, and III

Center for Genetics at Saint Francis Saint Francis Hospital
United States
31
  • D Deletion/duplication analysis

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Carrier Screening - Spinal Muscular Atrophy (SMN1)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
11
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Motor Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SMN1 & SMN2 - MLPA

Centogene AG - the Rare Disease Company
Germany
42
  • D Deletion/duplication analysis

SMN1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
41
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SMA Diagnostic Test

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

Results: 1 to 20 of 218

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.