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Pachyonychia Congenita Type 2
| Jackson-Lawler Syndrome | Pachyonychia Congenita, Jackson-Lawler Type
References:
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Gene Symbol*: KRT17 Chromosomal Locus: 17q12-q21 Protein Name: Keratin, type I cytoskeletal 17
Gene Symbol*: KRT6B Chromosomal Locus: 12q13 Protein Name: Keratin, type II cytoskeletal 6B
* MAY OR MAY NOT APPLY TO THE LABORATORIES LISTED BELOW. CONTACT INDIVIDUAL LABS FOR DETAILS ABOUT TESTING. 
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)
Contact: Sherri J Bale, PhD, FACMG
US Genetic Board Certification: American Board of Medical Genetics (PhD Medical Genetics)
No direct patient consultation provided.
Method: Analysis of the entire coding region: Sequence analysis Additional Testing Offered: Prenatal diagnosis Comments: Sequencing of hot spots (ends of the keratin rod domains) for both KRT6b and KRT17 is offered first. If no mutation is found, the entire coding regions of KRT6b and KRT17 can be sequenced.
CLIA#: 21D0969951 expires: 08/2009
GeneTests Laboratory Directory listing status: Current
Last updated: 03-DEC-08
LID#: 506
(Printed: Feb 02 2009 04:17 PST)
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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 |