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ABCA12-Related Autosomal Recessive Congenital Ichthyosis
Includes: Harlequin Ichthyosis
References:
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Gene Symbol: ABCA12 Chromosomal Locus: 2q34 Protein Name: ATP-binding cassette sub-family A member 12
GeneDx
Gaithersburg, MD
Director: Sherri J Bale, PhD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (PhD Medical Genetics)
Director: John G Compton, PhD
Director: Anne Maddalena, PhD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (Clinical Biochemical/Molecular Genetics)
Director: Gabriele Richard, MD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (PhD Medical Genetics)
Contact: Gabriele Richard, MD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (PhD Medical Genetics)
email: gabi@genedx.com
phone: (301) 519-2100 ext 6122
Contact: Sherri J Bale, PhD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (PhD Medical Genetics)
No direct patient consultation provided.
Methods: Analysis of the entire coding region: Sequence analysis, Deletion/duplication analysis, Sequence analysis of select exons Additional Testing Offered: Carrier testing, Prenatal diagnosis Comments:
CLIA#: 21D0969951 expires: 08/2009
GeneTests Laboratory Directory listing status: Current
Last updated: 03-DEC-08
LID#: 506
(Printed: May 10 2009 10:06 PDT)
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Disclaimer: GeneTests does not independently verify information provided by laboratories and does not warrant any aspect of a laboratory's work. | Contact GeneTests |
Sequence analysis of exons 28-32 for patients with Lamellar Ichthyosis of Northern African descent