Disorders


 

Autism Spectrum Disorders


Synonym(s): PDDs

 

GeneReviewOMIM

GeneLocusProtein
NLGN3Xq13.1 
NLGN4XXp22.33Neuroligin-4, X-linked
RPL10Xq28 
SHANK211q13.2 
SHANK322q13.3 
SNRPN15q11.2Neuroligin-3

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• FISH-metaphase
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Deletion/duplication analysis
Marquette General Health System, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA• FISH-metaphase
• FISH-interphase
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA• FISH-metaphase
• FISH-interphase
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA• FISH-metaphase
• FISH-interphase
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA• FISH-metaphase
• FISH-interphase
 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Sequence analysis of the entire coding region
 
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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