Autosomal recessive malignant osteopetrosis (MIM 259700) is a rare congenital disorder of bone resorption affecting 1/200,000 individuals. The condition is caused by failure of osteoclasts to resorb immature bone. This results in abnormal bone marrow cavity formation and bone marrow failure. Clinical features of osteopetrosis include fractures (especially of the long bones), visual impairment, nerve compression resulting in headaches, blindness and deafness, haematological difficulties, unusual dentition, frequent infections, failure to thrive, and growth retardation. It is diagnosed immediately/shortly after birth and death can occur by 2 years due to severe anaemia, bleeding and /or infection. Osteopetrosis is generally diagnosed through skeletal X-rays. Bones appear unusually dense on X-rays with a chalky white appearance. Bone density tests and bone biopsies can also confirm a diagnosis.

Also known as

Autosomal recessive malignant osteopetrosis

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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Clinically affected patients should if possible have their diagnosis confirmed by X-ray analysis, bone density tests and bone biopsies. The TCIRG1 gene located at 11q13, consists of 20 exons and encodes an a3 subunit of the vacuolar pump, which mediates acidification of bone/osteoclast interface. Mutations of this gene have been found in ~50% of autosomal recessive osteopetrosis patients. Mutation screening by direct sequencing is offered for exons 2 to 20 of the TCIRG1 gene in affected individuals.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

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Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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