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Results: 1 to 5 of 5

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531, Autosomal recessive; PMGYCHA (Bilateral polymicrogyria) (PI4KA 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

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531, Autosomal recessive; PMGYCHA (Bilateral polymicrogyria) (PI4KA 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

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

PI4KA Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 5 of 5

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