Home Page About GeneTests Gene Reviews Laboratory Directory Clinic Directory Educational Materials

Funded by the
National Institutes of Health

Welcome to GeneTests

Hepatic Veno-occlusive Disease with Immunodeficiency
References: Reviews vodi 273446 ; OMIM
Gene Symbol: SP110 Chromosomal Locus: 2q37.1 Protein Name: Sp110 nuclear body protein

Prince of Wales and Sydney Children's Hospitals
SEALS Genetics Laboratories  
Sydney, NSW, Australia
Director: Michael Buckley, PhD, FRCPA, FHGSA
email: michael.buckley@sesiahs.health.nsw.gov.au phone: (+61) 2-9382-9164 fax: (+61) 2-9382-9157
No direct patient consultation provided.

Method: Analysis of the entire coding region: Sequence analysis

Additional Testing Offered: Carrier testing, Prenatal diagnosis

Comments:
Tiered approach to testing: first sequence exons 2, 4 and 5. If no mutation found, rest of coding region is sequenced.
Carrier testing restricted to at-risk biological family members only

GeneTests Laboratory Directory listing status: Not Current (laboratory failed to provide annual review/verification)
Last updated: 02-JAN-07
LID#: 897
(Printed: Jan 31 2009 18:17 PST)

 


Disclaimer: GeneTests does not independently verify information provided by laboratories and does not warrant any aspect of a laboratory's work.

Copyright© 1993-2009,
All Rights Reserved

University of Washington, Seattle
Terms of Use


Funding Support
National Library of Medicine, NIH
National Human Genome Research Institute, NIH

Sponsoring Institution
University of Washington
Seattle, Washington