Testing Sites for X-Linked Ichthyosis

X-linked ichthyosis is a genetically inherited skin condition, characterized by dry, scaling skin, which affects only males. The scales of X-linked ichthyosis are often dark and cover only a portion of the body.   Boys born with X-linked ichthyosis often appear normal at birth, but the skin abnormalities usually develop during the first year of life.

The genetic defect in X-linked ichthyosis causes a deficiency of the enzyme steroid sulfatase. Low estriol levels detected in prenatal screenings indicate X-linked ichthyosis in the fetus.

Fluorescent In Situ Hybridization (FISH) testing for the steroid sulfatase gene deletion can confirm X-linked ichthyosis in the suspected fetus or child.  However, FISH testing can miss up to 10 % of individuals with X-linked ichthyosis. If the FISH is negative and the index of suspicions is high for X-linked ichthyosis, further testing in the form of an enzyme assay for steroid sulfatase activity is indicated.

Genomic microarray analysis can detect almost all disorders detected by standard cytogenetic analysis and multiple FISH tests.

The following laboratories are resources for the testing that can confirm a diagnosis of X-linked ichthyosis.

Fluorescent In Situ Hybridization (FISH) Testing Sites

California
Quest Diagnostics, Inc.
Cytogenetics Laboratory
Van Nuys, CA
Main: 800.339.4299
818.779.1582 for specimen & shipping requirements, and costs—draw station

Specialty Laboratories, Inc.
Cytogenetics Laboratory
Santa Monica, CA
800.421.4449 for specimen & shipping requirements, and costs
www.specialtylabs.com

Canada
The Credit Valley Hospital
Genetics Laboratory
Mississauga, Ontario, Canada
905.813.4104 for specimen & shipping requirements, and costs
www.cvh.on.ca/

Florida
All Children's Hospital
Cytogenetics and Molecular Genetics Laboratory
St. Petersburg, FL
727.767.8559 for specimen & shipping requirements, and costs
Email: sutcliff@allkids.org

Indiana
Indiana University School of Medicine
Cytogenetics Laboratory
Indianapolis, IN
317.274.2241 for specimen & shipping requirements, and costs

Louisiana
Tulane University School of Medicine
Hayward Genetics Center Cytogenetics Lab
New Orleans, LA
504.988.5229 for specimen & shipping requirements, and costs
www.haywardgenetics.tulane.edu

Massachusetts
Boston University School of Medicine
Center for Human Genetics
Boston, MA
617.638.7083 for specimen & shipping requirements, and costs

Brigham and Women’s Hospital
Cytogenetics Laboratory
Boston, MA
857.307.1500
617.732.7981 for specimen & shipping requirements, and costs
www.brighamandwomens.org/cytogenetics/#

Minnesota
Mayo Clinic
Cytogenetics Laboratory
Rochester, MN
800.533.1719 for specimen & shipping requirements, and costs
Email: mml@mayo.edu

Mayo Medical Laboratories International
US access # plus 507-266-5700
Email: mmlglobal@mayo.edu

Montana
Shodair Hospital
Genetics Laboratory
Helena, MT
800.447.6614 Hospital switchboard number
406.444.7532 Lab
Email: mtgene@shodair.org

Nebraska
University of Nebraska Medical Center
Human Genetics Laboratory, Munroe–Meyer Institute
Omaha, NE
402.559.5229 specimen & shipping requirements, and costs
Email: rfordyce@unmc.edu
www.unmc.edu/services/geneticslab

 
New York
SUNY Upstate Medical University
Cytogenetics Laboratory
Syracuse, NY
877.464.4716 for specimen & shipping requirements, and costs

North Carolina
GeneCare Medical Genetics
Molecular Cytogenetics Laboratory
Chapel Hill, NC
919.942.0021
800.277.4363 for specimen & shipping requirements, and costs
www.genecare.com

Wake Forest University School of Medicine
Section of Medical Genetics
Winston-Salem, NC
866.487.2344 Toll Free
336.713.7500 for specimen & shipping requirements, and costs
Email Kris Morris cmorris@wfubmc.edu

Ohio
Columbus Children’s Hospital
Cytogenetics Laboratory
Columbus, OH
Edie Paal, Lab Coordinator
614.722.5321 specimen & shipping requirements, and costs
www.childlab.com

Tennessee
Genetics Associates, Inc.
Nashville, TN
615.327.4532
800.331.GENE (4363) for specimen & shipping requirements, and costs
www.geneticsassociates.com

T.C. Thompson Children’s Hospital
Genetic Diagnostic Laboratory
Chattanooga, TN
423.778.6279 for specimen & shipping requirements, and costs

Texas
Baylor College of Medicine
Cytogenetics Laboratory
Houston, TX
713.798.6555 for for specimen & shipping requirements, and costs
800.411.GENE (4363)
Email: genetictest@bcm.tmc.edu

Virginia
Quest Diagnostics, Inc.
Cytogenetics Laboratory
Chantilly, VA
703.802.7100 for specimen & shipping requirements, and costs

Washington
Children’s Hospital and Regional Medical Center
Cytogenetics
Seattle, WA
206.987.2216 for specimen & shipping requirements, and costs

Sacred Heart Medical Center
Cytogenetics Laboratory
Spokane, WA
509.474.4441 for specimen & shipping requirements, and costs

Signature Genomic Laboratories
Spokane, WA
509.474.6840 for specimen & shipping requirements,and costs
Email: info@signaturegenomics.com
www.signaturegenomics.com

University of Washington Medical Center
Cytogenetics Laboratory
Seattle, WA
Christine Disteche, PhD
206.598.4488 for specimen & shipping requirements, and costs
www.uwmedicine.org
 

Enzyme Assay for Steroid Sulfatase Activity

Baylor College of Medicine
Biochemical Genetics
Houston, TX
713.798.6555 for specimen & shipping requirements, and costs
 

University of Nebraska Medical Center
Biochemical Diagnostic Laboratory
Omaha, NE
Dr. William Rizzo - 402.559.5260, wrizzo@unmc.edu
Melanie Schrack - 402.559.2550
www.unmc.edu/services/geneticslab/Biochem.htm
 
 

Genomic Microarray Analysis
Baylor College of Medicine
Cytogenetics Laboratory
Houston, TX
Please call 800.411.4363 prior to sending a sample
www.bcmgeneticlabs.org/tests/cyto/cma.html

 
Signature Genomics Laboratories
Spokane, WA
509.474.6840 specimen & shipping requirements, and costs
Email: info@signaturegenomics.com
www.signaturegenomics.com
 


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