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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic DNA Test

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

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

GCM2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Hypoparathyroidism, familial isolated, 146200, Autosomal dominant; FIH (Familial isolated hypoparathyroidism) (GCM2 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

Hyperparathyroidism 4, 617343, Autosomal dominant; HRPT4 (Familial isolated hyperparathyroidism) (GCM2 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Hypoparathyroidism Panel

PreventionGenetics, part of Exact Sciences
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Isolated Hypoparathyroidism via the GCM2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy

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

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Family hypoparathyroidism (WES based NGS panel of 15 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
112
  • C Sequence analysis of the entire coding region

Hyperparathyroidism (WES based NGS panel of 11 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
111
  • C Sequence analysis of the entire coding region

Nephrology Panel 

CGC Genetics Unilabs
Portugal
1334
  • C Sequence analysis of the entire coding region

Male Infertility Panel

CGC Genetics Unilabs
Portugal
1165
  • C Sequence analysis of the entire coding region

Female Infertility Panel

CGC Genetics Unilabs
Portugal
1129
  • 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

Hypoparathyroidism, familial isolated , Hyperparathyroidism 4 (sequence analysis of GCM2 gene)

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

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

HEREDITARY CANCER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1249
  • E Sequence analysis of select exons

Results: 1 to 20 of 41

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.