xGen® Inherited Diseases Panel,idt_specification/price/image

Product Detail
Company Profile

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