U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...
See more states

Other countries

Results: 1 to 20 of 27

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

SMN1 & SMN2 - MLPA

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

Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (MLPA)

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

Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (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 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

Invitae Hereditary Motor Neuropathy Panel

Invitae
United States
6026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

SMN1 Deletion Analysis

Baylor Genetics
United States
41
  • D Deletion/duplication analysis

Spinal Muscular Atrophy (SMN1 Deletion)

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
42
  • D Deletion/duplication analysis

Spinal Muscular Atrophy (SMN1/SMN2) MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
42
  • D Deletion/duplication analysis

Custom JHP

NxGen MDx
United States
87
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Universal Panel Plus

NxGen MDx
United States
2122
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ashkenazi Jewish Panel

NxGen MDx
United States
2021
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.