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Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

NLRP1 Gene Vitiligo-associated multiple autoimmune disease NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NLRP1 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Corneal Dystrophies Panel

Invitae
United States
6533
  • D Deletion/duplication analysis

Autoinflammation with arthritis and dyskeratosis, 617388, Autosomal recessive, Autosomal dominant; AIADK (Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome) (NLRP1 gene) (Sequence Analysis-All Coding Exons) (

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

Autoinflammation with arthritis and dyskeratosis, 617388, Autosomal recessive, Autosomal dominant; AIADK (Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome) (NLRP1 gene) (Sequence Analysis-All Coding Exons) (

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

Vitiligo-associated multiple autoimmune disease susceptibility 1, 606579; VAMAS1 (NLRP1 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

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Vitiligo-associated multiple autoimmune disease susceptibility (sequence analysis of NLRP1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Corneal Diseases Panel

Mendelics
Brazil
128
  • C Sequence analysis of the entire coding region

Ichthyosis and Ectodermal Dysplasia Panel

Mendelics
Brazil
258
  • C Sequence analysis of the entire coding region

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

AUTOINFLAMMATORY SYNDROMES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1108
  • E Sequence analysis of select exons

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

Results: 1 to 20 of 36

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.