DiGeorge Syndrome

Synonym(s): DGS

 

OMIMRelated Disorders

Test Type
Molecular (12)
Cytogenetic (8)
Multi-Gene Panel (5)
Multi-Method Panel (3)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (3)
Del/Dup (CNV) (6)
FISH-Interphase (2)
FISH-Metaphase (6)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (4)
Prenatal/Carrier
Prenatal (10)
Carrier (7)
Lab Location
USA(9)
Poland(1)
Spain(5)
Germany(2)
Portugal(2)
Netherlands(1)


Test
Chromosome FISH, Metaphase
method(s): ◦ FISH-Metaphase 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA
TAT: 1 week
price: contact lab
Products of Conception (POC) Microarray Testing
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
Natera, Inc. - San Carlos, CA, USA
Microdeletions Test (the most common microdeletions) MLPA analysis
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
DiGeorge Syndrome I (22q only)
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Primary Immunodeficiency Gene Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
Di George Syndrome , FISH Whole Blood
method(s): ◦ FISH-Metaphase 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Di George Syndrome, FISH Prenatal Diagnostic
method(s): ◦ FISH-Metaphase 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
Di-George/Velocardiofacial syndrome (22q11 microdeletion)
method(s): ◦ FISH-Interphase 
Cidegen, SL - Salamanca, Spain
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Detection by FISH of 22q11.2 delection
method(s): ◦ FISH-Metaphase 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
FISH for Velocardiofacial/DiGeorge/22q11.2 deletion Syndrome and 22q11.2 duplication syndrome
method(s): ◦ FISH-Interphase ◦ FISH-Metaphase 
Cedars-Sinai Medical Center, Division of Cytogenetics - Los Angeles, CA, USA
TAT: 2-3 weeks
price: $1,150.00
Congenital heart disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,500.00
Congenital heart disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,500.00
Congenital heart disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
DiGeorge syndrome (deletion/duplication analysis of TBX1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 1-2 weeks
price: $450.00
KaryoNIM 60K Postnatal
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 1-2 weeks
price: $560.00
KaryoNIM 180K Autism
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: ~2 weeks
price: contact lab
DiGeorge syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
22q11.2 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Los Angeles, Center for Personalized Medicine Laboratory - Los Angeles, CA, USA
TAT: 4-6 weeks
price: contact lab
22q11 deletion- Del/Dup analysis
method(s): ◦ Del/Dup (CNV) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands