Disorders


 

Amish Lethal Microcephaly


Synonym(s): Amish Microcephaly, MCPHA

 

GeneReviewOMIM

GeneLocusProtein
SLC25A1917q25.1Mitochondrial thiamine pyrophosphate carrier

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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