Velocardiofacial Syndrome

Synonym(s): Shprintzen Syndrome , VCFS

 

OMIMRelated Disorders

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


Test
Chromosome FISH, Metaphase
method(s): ◦ FISH-Metaphase 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA
Velocardiofacial Syndrome , Deletions TBX1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
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: contact lab
Congenital heart disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Congenital heart disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Congenital heart disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
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: 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