16p13.3 Deletion Syndrome

Synonym(s): PKD1/TSC2 Deletion Syndrome

 

GeneLocusProtein
PKD116p13.3Polysystin 1
TSC216p13.3Tuberin
Test Type
Molecular (13)
Cytogenetic (2)
Multi-Gene Panel (12)
Multi-Method Panel (9)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (3)
Del/Dup (CNV) (12)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (8)
Carrier (10)
Lab Location
USA(12)
Portugal(1)
Spain(2)


Test
TAT: 2-3 weeks
price: contact lab
CancerNext - Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-3 weeks
price: contact lab
RenalNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Contiguous TSC2/PKD1 deletion syndrome
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
EpiFirst - IS (Infantile Spasms)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks
price: contact lab
EpilepsyNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-6 weeks
price: contact lab
AutismNext (Autism Spectrum Disorders)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
Tuberous Sclerosis Complex Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 8-10 weeks
price: contact lab
Neurodevelopment -Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 7-10 days
price: contact lab
Constitutional Cytogenomic Microarray Analysis
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
Clinical Cytogenomics Laboratory, Center for Precision Diagnostics - Seattle, WA, 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: 2-3 weeks
price: contact lab
CustomNext-Cancer
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
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: 7-10 days
price: contact lab
EpiRapid - Rapid epilepsy test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-3 weeks
price: contact lab
BrainTumorNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks
price: contact lab
CustomNext - Epilepsy
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA