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Results: 1 to 20 of 26 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Growth hormone insensitivity with immunodeficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive SCID panel

Centogene AG - the Rare Disease Company
Germany
2523
  • C Sequence analysis of the entire coding region

B-positive SCID panel

Centogene AG - the Rare Disease Company
Germany
1615
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GROWTH HORMONE INSENSITIVITY SYNDROME

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Immune Dysregulation Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3223
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Blueprint Genetics
Finland
168
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Syndrome Panel

Blueprint Genetics
Finland
461
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined immunodeficiencies Panel

CeGaT GmbH
Germany
2360
  • -- Sequence analysis of the entire coding region

Hemato-oncology chromosomal microarray

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2393
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1521
  • C Sequence analysis of the entire coding region

STAT5B Deletion/duplication analysis

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

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
519
  • D Deletion/duplication analysis

STAT5B

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1414
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.

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