Test Code: PNL104
Hereditary Multiple Exostoses Panel [Ostoechondromatosis] (3 Genes)
Rare Diseases
Hereditary Multiple Osteochondromas (HMO), also known as Multiple Hereditary Exostoses (MHE), is an autosomal dominant skeletal disorder characterised by the development of multiple benign bone tumours (osteochondromas) near the growth plates of long bones. These lesions can cause bony deformities, limb malalignment, short stature, joint pain, and gait abnormalities of varying severity. The lifetime risk of malignant transformation to chondrosarcoma is approximately 2–5%.
Our Exostoses, Multiple (Osteochondromatosis) panel analyses 3 genes associated with this condition:
EXT1 Hereditary Multiple Osteochondromas (HMO) ~60–70% of cases;
EXT2 Hereditary Multiple Osteochondromas (HMO) ~20–30% of cases;
PTPN11 Noonan syndrome / LEOPARD syndrome Included for differential diagnosis of skeletal features overlapping with HMO
Our Exostoses, Multiple (Osteochondromatosis) panel analyses 3 genes associated with this condition:
EXT1 Hereditary Multiple Osteochondromas (HMO) ~60–70% of cases;
EXT2 Hereditary Multiple Osteochondromas (HMO) ~20–30% of cases;
PTPN11 Noonan syndrome / LEOPARD syndrome Included for differential diagnosis of skeletal features overlapping with HMO
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
21 - 28 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
3 genes
EXT1
EXT2
PTPN11
Methodology
All coding exons and flanking intronic regions of EXT1, EXT2, and PTPN11 are enriched using capture-based target enrichment and sequenced on an NGS platform.
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