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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spinal Muscular Atrophy (MLPA`s)

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • 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

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

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

Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (SMN1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (SMN1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (SMN2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (SMN2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

UNITY Carrier Screen

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

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen without X-Linked Disorders

Invitae
United States
82
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy via MLPA of SMN1 and SMN2

PreventionGenetics, Part of Exact Sciences
United States
42
  • D Deletion/duplication analysis

Invitae Spinal Muscular Atrophy Panel

Invitae
United States
42
  • D Deletion/duplication analysis

Results: 1 to 20 of 46

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.