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Results: 1 to 20 of 67

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

NewbornGeneID

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

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

Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (MLPA)

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

Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (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-1, 253300, Autosomal recessive; SMA1 (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-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (Prenatal) (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 MLPA

Genetics Service Unit National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

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 67

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.