Disorders

Hereditary Sensory Neuropathy Type IA

Synonym(s): Hereditary Sensory and Autonomic Neuropathy Type 1A, Hereditary Sensory Neuropathy Type 1A, HSAN IA, HSAN1A, HSN IA, HSN1A

GeneReview OMIM

Gene	Locus	Protein
SPTLC1	9q22.31	Serine palmitoyltransferase 1

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands	• Sequence analysis of the entire coding region
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Sequence analysis of select exons
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA	• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region
Ruhr University, Human Genetics - Bochum, Germany	• Sequence analysis of the entire coding region
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain	• Sequence analysis of select exons
University Hospital Jena, Institute of Human Genetics - Jena, Germany	• Sequence analysis of the entire coding region • Linkage 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.