PHKA2 Mutation Analysis Molecular Diagnostics Laboratory Duke University Health System
United States | 1 | 1 | - C Sequence analysis of the entire coding region
|
CentoMetabolic MOx Centogene US, LLC - The Rare Disease Company
United States | 195 | 221 | - A Analyte
- D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoIEM Panel Centogene US, LLC - The Rare Disease Company
United States | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Diabetes and Obesity Panel Centogene US, LLC - The Rare Disease Company
United States | 248 | 262 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
PHKA2 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company
United States | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoMetabolic MOx Centogene AG - the Rare Disease Company
Germany | 195 | 221 | - A Analyte
- D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
PHKA2 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company
Germany | 248 | 262 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Hypoglycemia Panel Invitae
United States | 173 | 119 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Hypoglycemia Panel - Expanded PreventionGenetics
United States | 125 | 110 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Glycogen storage disease, type IXa1, 306000, X-linked recessive (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKA2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Glycogen storage disease, type IXa1, 306000, X-linked recessive (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKA2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Glycogen storage disease, type IXa2, 306000, X-linked recessive (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKA2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Glycogen storage disease, type IXa2, 306000, X-linked recessive (Glycogen storage disease due to liver phosphorylase kinase deficiency) (PHKA2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
PHKA2 - Glycogen storage disease type Ixa Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands | 1 | 1 | - C Sequence analysis of the entire coding region
|
Invitae Comprehensive Glycogen Storage Disease Panel Invitae
United States | 37 | 28 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Metabolic Hypoglycemia Panel PreventionGenetics
United States | 38 | 38 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
PHKA2. Complete sequencing IGENOMIX
Spain | 1 | 1 | - C Sequence analysis of the entire coding region
|
Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics
United States | 33 | 33 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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