Disorders


 

LIS1-Associated Lissencephaly/Subcortical Band Heterotopia


Synonym(s): PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia

 

GeneReviewOMIM

GeneLocusProtein
PAFAH1B117p13.3Platelet-activating factor acetylhydrolase IB subunit alpha

Laboratory Test Method Prenatal Carrier *
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA• FISH-metaphase
 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• FISH-metaphase
• Deletion/duplication analysis
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• FISH-metaphase
 
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA• FISH-metaphase
 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Inc - Cambridge, MA, USA• FISH-metaphase
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA• FISH-metaphase
 
CytoGenX - Stony Brook, NY, USA• FISH-metaphase
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Atlanta, GA, USA• FISH-metaphase
• FISH-interphase
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Genetics Associates, Inc. - Nashville, TN, USA• FISH-metaphase
 
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
 
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA• FISH-metaphase
 
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA• FISH-metaphase
 
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA• FISH-metaphase
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA• FISH-metaphase
• FISH-interphase
 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA• FISH-metaphase
• FISH-interphase
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA• FISH-metaphase
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• FISH-metaphase
• Deletion/duplication analysis
 
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA• FISH-metaphase
• FISH-interphase
 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA• FISH-metaphase
• FISH-interphase
 
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA• FISH-metaphase
 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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
 
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA• FISH-metaphase
 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA• FISH-metaphase
 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA• FISH-metaphase
 
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• FISH-metaphase
• FISH-interphase
 
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA• FISH-metaphase
 
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA• FISH-metaphase
 
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region
• FISH-metaphase
• Deletion/duplication analysis
 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• FISH-metaphase
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA• FISH-metaphase
• FISH-interphase
 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA• FISH-metaphase
• FISH-interphase
 
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA• FISH-metaphase
 
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA• FISH-metaphase
• FISH-interphase
• 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.

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