Disorders

Spinal Muscular Atrophy with Respiratory Distress 1

Synonym(s): Distal Hereditary Motor Neuronopathy Type VI, HMN VI, HMN6, HMN6, SMARD1, Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

OMIM

Gene	Locus	Protein
IGHMBP2	11q13.3	DNA-binding protein SMUBP-2

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Sequence analysis of the entire coding region
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of the entire coding region
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Cologne University, Institute of Human Genetics - Cologne, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.