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Results: 21 to 40 of 71

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pituitary hormone deficiency (WES based NGS panel of 29 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
129
  • 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

Pituitary hormone deficiency (WES based NGS panel of 25 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
125
  • 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

Kallmann syndrome (deletion/dupliction analysis of FGFR1, GNRH1, GNRHR, KISS1R, NELF, PROK2 and PROKR2 genes)

CGC Genetics Unilabs
Portugal
17
  • D Deletion/duplication analysis

Hypogonadotropic hypogonadism 3 with or without anosmia (sequence analysis of PROKR2 gene)

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

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

Kallmann syndrome panel. 9-gene NGS panel.

Genologica Medica
Spain
179
  • C Sequence analysis of the entire coding region

Genital Abnormalities / Sex Development Disorders Panel

Genologica Medica
Spain
9549
  • C Sequence analysis of the entire coding region

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1210
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Kallmann Syndrome Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2524
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Custom XomeDx Slice – Differences of Sex Development (Proband Only)

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 71

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.