The xGen® Inherited Diseases Panel consists of 116,355 individually synthesized and quality controlled xGen Lockdown® Probes designed for targeted enrichment of 4503 genes and 180 SNPs associated with inherited diseases. The panel enables deeper sequencing of these genes, increasing the ability to detect disease-causing mutations. The gene list is based on the HGMD® (Human Gene Mutation Database) repository of known inherited disease-causing mutations and was refined by the Emory Genetics Laboratory at Emory University for clinical significance and relevance.

 

Benefits

• High uniformity across all targets
• Easily expanded by adding custom xGen® Lockdown® Probes
• Can be spiked into Nimblegen or Illumina exome capture kits to enhance their sensitivity
• Easy online ordering and next-day shipping

 

 

 

 

 

Features

• 116,355 xGen® Lockdown® Probes targeting 4503 genes and 180 SNPs
• Individually synthesized and quality controlled probes
• Targets based on the HGMD® and defined in collaboration with Emory Genetics Laboratory
• Validated with the xGen 4-hour Capture Protocol developed at IDT

 

 

 

 

 

Introduction

Whole exome sequencing has traditionally been the standard method for detecting a wide variety of inherited diseases. In addition to providing poor coverage of many disease-causing mutations, exome capture panels often waste sequencing reads on irrelevant genomic regions. The xGen® Inherited Diseases Panel was developed in collaboration with the Emory Genetics Laboratory (EGL) at Emory University as a single panel that targets all disease-causing mutations as defined by the HGMD® database. The Inherited Diseases Panel combines the ease of whole exome sequencing with the low per sample cost of targeted panels.

Source: http://ww2.aievolution.com/acm1401/index.cfm?do=abs.viewAbs&abs=2070

 

Panel

The xGen® Inherited Diseases Panel targets exons in 4503 genes, and 183 SNPs. Genes associated with the following disorders are included in this single enrichment panel:

 

Disease	No. of Genes on Panel
Autism Spectrum Disorders	60
Cardiomyopathy	93
– Arrhythmias	29
– Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy	7
– Brugada Syndrome	8
– Dilated Cardiomyopathy	25
– Hypertropic Cardiomyopathy	14
– Long and Short QT Syndrome	12
– Pulmonary Arterial Hypertension	4
– Sudden Cardiac Arrest	10
– Thoracic Aortic Aneurysm & Dissection and Related Disorders	6
Ciliopathies	112
Congenital Disorders of Glycosylation	66
Congenital Myasthenic Syndromes	11
Epilepsy and Seizure Disorders	108
Eye Disorders	205
– Achromatopsia, Cone, and Cone-Rod Dystrophy	36
– Albinism	5
– Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly	22
– Bardet-Biedl Syndrome	18
– Congenital Stationary Night Blindness	15
– Flecked-Retina Disorders	6
– Joubert Syndrome	18
– Leber Congenital Amaurosis	18
– Macular Dystrophy/Degeneration/Stargardt Disease	16
– Neuronal Ceroid Lipofuscinoses	11
– Optic Atrophy	5
– Retinitis Pigmentosa	65
– Senior Loken Syndrome	7
– Stickler Syndrome	5
– Usher Syndrome	13
– Vitreoretinopathy	9
Comprehensive Glycogen Storage Disorders	20
– Glycogen Storage Disorders: Liver	11
– Glycogen Storage Disorders: Muscle	12
Hearing Loss	87
Hereditary Cancer Syndrome	46
Hereditary Periodic Fever Syndromes	7
Inflammatory Bowel Disease	22
Lysosomal Storage Disorders	55
Maturity Onset Diabetes of the Young	4
Multiple Epiphyseal Dysplasia	7
Neuromuscular Disorders	46
– Congenital Muscular Dystrophy	18
– Limb-Girdle Muscular Dystrophy	26
Noonan Syndrome and Related Disorders	12
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum	15
Short Stature Panel	40
Skeletal Dysplasia	162
X-Linked Intellectual Disability	92

Source: http://genetics.emory.edu/egl/about/index.php/1583

 

About IDT

Integrated DNA Technologies (IDT) is a leader in manufacturing and developing products for the research and diagnostics life science market. IDT serves the areas of academic research, biotechnology, and pharmaceutical development. IDT was founded by Dr Joseph Walder in 1987. Since then, its development has been guided by an uncompromising approach to quality, a belief in the value of good service, and a determination to minimize consumer costs.

Serving over 80,000 life sciences researchers, IDT is widely recognized as the industry leader in custom oligonucleotides due to its capabilities in:

Analytical Sophistication—IDT pioneered the use of high throughput quality control (QC) methods and is the only oligonucleotide manufacturer to offer purity guarantees and 100% QC. Every oligonucleotide is analyzed by mass spectrometry and purified oligonucleotides receive further analysis by CE and HPLC.
Design Engineering—IDT maintains an engineering division dedicated to advancing synthesis, processing technology, and automation. An in-house machine shop provides rapid prototyping and custom part design/control.
Customer Support—IDT received over 100,000 calls last year with an average wait time of only 8 seconds.
Reagent and Input Control—IDT receives all solvents in large bulk containers, runs QC on all incoming materials, and performs bulk reagent formulation and functional QC on all reagents.
IDT has over 700 employees serving our worldwide customer base from headquarters in Coralville, Iowa, and facilities in San Diego, California; Leuven, Belgium; and Singapore.