PLOD3

OMIMHGNC

Synonym(s): LH3

Locus: 7q22.1

Protein: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

 

Disorders

Tests

Test Type
Molecular (19)
Multi-Gene Panel (12)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (10)
Methylation Analysis (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (6)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (13)
Prenatal/Carrier
Carrier (1)
Lab Location
Spain(3)
USA(12)
Netherlands(1)
Germany(2)
Portugal(1)
 
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: COL6A2, GLE1, PLOD3, VIPAS39, VPS33B
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Ehlers Danlos syndrome
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the PLOD3 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
PLOD3 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
PLOD3 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
PLOD3 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
PLOD3 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
PLOD3 Sequence and Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 10-12 weeks
price: contact lab
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-6 weeks
price: contact lab
Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
PLOD3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (NGS panel of 44 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 16-20 weeks
price: contact lab
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes + Fragile X Repeat Expansion and Methylation)
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA