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Results: 21 to 40 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12065
  • D Deletion/duplication analysis

Monogenic Diabetes Panel

Genetic Services Laboratory University of Chicago
United States
1469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq® Immuno: Periodic Fever Syndromes Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
158
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • C Sequence analysis of the entire coding region

Hypogonadotropic hypogonadism (WES based NGS panel of 40 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
140
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Diabetes panel_v.2.0

CGC Genetics Unilabs
Portugal
1130
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

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

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Histiocytosis-lymphadenopathy plus syndrome (sequence analysis of SLC29A3 gene)

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

Histiocytosis-lymphadenopathy plus syndrome (deletion/duplication analysis of SLC29A3 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Skeletal Diseases Panel

Mendelics
Brazil
1333
  • C Sequence analysis of the entire coding region

OSTEOGENESIS IMPERFECTA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
144
  • E Sequence analysis of select exons

OSTEOPETROSIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
130
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

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

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

AUTOINFLAMMATORY SYNDROMES EXOME PANEL

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

Inherited Loss of Hearing Panel

Dhiti Omics Technologies Private Ltd
India
8179
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 61

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.