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Results: 1 to 20 of 40

Tests names and labsConditionsGenes and analytesMethods

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

POU1F1-Related Combined Pituitary Hormone Deficiency

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
21
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency, combined type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy Comprehensive panel

Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short stature with endocrinopathy Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy NGS panel

Connective Tissue Gene Tests
United States
1614
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection

PreventionGenetics
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LHX3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

LHX4. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

POU1F1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

PROP1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
66
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes

Reference Laboratory Genetics
Spain
2419
  • C Sequence analysis of the entire coding region

COMBINED PITUITARY HORMONE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
66
  • C Sequence analysis of the entire coding region

Hypothyroidism and Thyroid Hormone Resistance

Asper Biogene Asper Biogene LLC
Estonia
2921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency

Asper Biogene Asper Biogene LLC
Estonia
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital hypopituitarism (NGS panel for 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Septooptic dysplasia (NGS panel for 17 genes)

CGC Genetics
Portugal
1617
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.

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