Osteopetrosis NGS Panel

Autosomal Recessive malignant or infantile Osteopetrosis (MIOP) and Autosomal dominant osteopetrosis type I (OPTA1; and type II (OPTA2)

Clinical Research Prenatal Carrier

Test Details
Disorder◦ Autosomal Dominant Osteopetrosis Type II
◦ Buschke-Ollendorff Syndrome
◦ CLCN7-Related Osteopetrosis
◦ Camurati-Engelmann Disease
◦ Chondrocalcinosis 2
◦ Chondrodysplasia, Blomstrand Type
◦ Craniometaphyseal Dysplasia, Autosomal Dominant
◦ Infantile Malignant CLCN7-Related Autosomal Recessive Osteopetrosis
◦ Intermediate Autosomal Osteopetrosis
◦ LRP5-Related Autosomal Dominant Osteopetrosis
◦ Leukocyte adhesion deficiency, type III
◦ Metaphyseal Chondrodysplasia, Jansen Type
◦ OSTM1-Related Autosomal Recessive Osteopetrosis
◦ Osteopathia Striata with Cranial Sclerosis
◦ Osteopetrosis with Renal Tubular Acidosis
◦ PLEKHM1-Related Autosomal Recessive Osteopetrosis
◦ Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
◦ Raine Syndrome
◦ Sclerosteosis 1
◦ TCIRG1-Related Autosomal Recessive Osteopetrosis
◦ TNFRSF11A- Related Autosomal Recessive Osteopetrosis
◦ TNFSF11-Related Autosomal Recessive Osteopetrosis
Type◦ Molecular
◦ Multi-Gene Panel
Method◦ Sequencing, Next Gen
GenesAMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, FERMT3, IKBKG, LEMD3, LRP5, OSTM1, PLEKHM1, PTH1R, RASGRP2, SNX10, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, TYROBP
Ordering
Test URLhttp://www.nbt.nhs.uk/genetics
Turnaround Time6-8 weeks
Preferred SpecimenDNA
Alternate SpecimenEDTA Blood (3 - 5ml)
Billing
New York Approved
ABN Required
 

Laboratory

Bristol Genetics Laboratory
Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital
Bristol
BS10 5NB
United Kingdom

email: genetics@nbt.nhs.uk

Lab Details

 

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