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Results: 1 to 7 of 7

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011, Autosomal recessive; MDFPMR (Megalencephaly-severe kyphoscoliosis-overgrowth syndrome) (HERC1 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

Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011, Autosomal recessive; MDFPMR (Megalencephaly-severe kyphoscoliosis-overgrowth syndrome) (HERC1 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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, Part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Results: 1 to 7 of 7

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