Disorders

Hereditary Sensory and Autonomic Neuropathy Type IC

Synonym(s): Hereditary Sensory and Autonomic Neuropathy Type 1C, Hereditary Sensory Neuropathy Type 1C, HSAN IC, HSAN1C, HSN IC

OMIM

Gene	Locus	Protein
SPTLC2	14q24.3	Serine palmitoyltransferase 2

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
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

^* 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.