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Gene

PHKG2-phosphorylase kinase catalytic subunit gamma 2
Also know as: GSD9C; GeneID:5261; Location:16p11.2;
Associated conditions: Glycogen phosphorylase kinase deficiency;  Glycogen storage disease IXc

Labs matching your search


30 labs with tests matching your search, 2 labs matching in other ways
Results:
84 genetic tests from 30 labs with tests matching your search, 2 labs matching in other ways
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Tests names and labsConditionsGenes, analytes, and microbesMethods

PHKG2 Gene Glycogen storage disease type 9C NGS Genetic DNA Test

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

Multigene panel for metabolic myopathies and rhabdomyolysis based on whole-exome sequencing

CGPP - Center for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology
Portugal
193
  • S Mutation scanning of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

Glycogen Storage Disease Gene Panel

Mayo Clinic Laboratories, Mayo Clinic
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Gene Panel

Mayo Clinic Laboratories, Mayo Clinic
United States
8112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cirrhosis due to liver phosphorylase kinase deficiency (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Cirrhosis due to liver phosphorylase kinase deficiency (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKG2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Glycogen storage disease IXc, 613027, Autosomal recessive; GSD9C (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Glycogen storage disease IXc, 613027, Autosomal recessive; GSD9C (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKG2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

PHKG2 - Glycogen storage disease type Ixc

Translational Metabolic Laboratory, Radboud University Medical Centre
Netherlands
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

PHKG2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

PHKG2 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PHKG2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PHKG2 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

PHKA1 Deletion/Duplication Analysis

Baylor Genetics
United States
12
  • D Deletion/duplication analysis

Inborn error of metabolism panel

CGC Genetics, Unilabs
Portugal
1920
  • C Sequence analysis of the entire coding region
84 tests from 30 labs
See all labs
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Page 1 of 5
Multigene panel for metabolic myopathies and rhabdomyolysis based on whole-exome sequencing by CGPP - Center for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology
1 condition, 93 genes
Invitae Hypoglycemia Panel by Labcorp Genetics (formerly Invitae), LabCorp
173 conditions, 119 genes
Glycogen Storage Disease Gene Panel by Mayo Clinic Laboratories, Mayo Clinic
1 condition, 28 genes
Cholestasis Gene Panel by Mayo Clinic Laboratories, Mayo Clinic
8 conditions, 112 genes
qGenEx Intellectual disability by Quantitative Genomic Medicine Laboratories, SL
3 conditions, 1969 genes
PHKG2 - Glycogen storage disease type Ixc by Translational Metabolic Laboratory, Radboud University Medical Centre
1 condition, 1 gene
Metabolic Hypoglycemia Panel by PreventionGenetics, part of Exact Sciences
38 conditions, 38 genes

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.