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Results: 1 to 20 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CASR - NGS including CNV analysis

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

Invitae Hypoparathyroidism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4118
  • D Deletion/duplication analysis

Invitae Renal Tubular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6839
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
11050
  • C Sequence analysis of the entire coding region

Invitae Nephrolithiasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6640
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy idiopathic generalized, susceptibility to, 8, 612899 (Familial hypocalciuric hypercalcemia) (CASR 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

Epilepsy idiopathic generalized, susceptibility to, 8, 612899 (Familial hypocalciuric hypercalcemia) (MLPA)

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

Invitae Progressive Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
310195
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Nephrolithiasis panel. 35-gene NGS panel.

Genologica Medica
Spain
6035
  • C Sequence analysis of the entire coding region

Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel.

Genologica Medica
Spain
7434
  • C Sequence analysis of the entire coding region

Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel.

Genologica Medica
Spain
6032
  • C Sequence analysis of the entire coding region

Hyperparathyroidism panel. NGS panel of 13 genes.

Genologica Medica
Spain
2113
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Bartter syndrome panel. 9-gene NGS panel.

Genologica Medica
Spain
139
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 49

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.