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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

PCK1 - NGS including CNV analysis

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Pyruvate Metabolism and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypoglycemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680, Autosomal recessive (Phosphoenolpyruvate carboxykinase deficiency) (PCK1 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

Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680, Autosomal recessive (Phosphoenolpyruvate carboxykinase deficiency) (PCK1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Glycogen Storage Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Organic Acidemias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
11898
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 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

Glycogen Storage Disease and Disorders of Glucose Metabolism Panel

PreventionGenetics, part of Exact Sciences
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes.

Genologica Medica
Spain
7350
  • C Sequence analysis of the entire coding region

Phosphoenolpyruvate carboxykinase deficiency, cytosolic: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

PCK1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

PCK1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

PCK1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

PCK1  Sequence Analysis (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Glycogen storage disorders

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
1717
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.