Torg-Winchester syndrome

Torg-Winchester syndrome (MIM 259600) is an autosomal recessive disorder. It was originally defined as three separate entities: Torg syndrome, Winchester syndrome and multicentric osteolysis with nodulosis and arthropathy (NOA syndrome). The 2006 revision of the Nosology of Constitutional Disorders of Bone classified Torg and Winchester syndromes as a single entity with NOA syndrome as a variant. Torg syndrome is characterized by a mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Widening of the metacarpal and metatarsal shafts, narrowing of the joints and erosions are seen. Contractures and progression involvement of other joints may occur. Another feature of Torg- syndrome is the presence of painless subcutaneous nodules. In Winchester syndrome there is severe osteolysis in the hands and feet and generalized osteoporosis. These patients do not have subcutaneous nodules. Facial dysmorphism, corneal opacities gum hypertrophy and EKG changes may be features. NOA syndrome patients display features of both Torg syndrome and Winchester syndrome. There is massive carpal and tarsal osteolysis, interphalangeal joint erosions with flexion contractures, generalized osteoporosis, facial dysmorphism, body hirsutism, and multiple painful plantar and palmar subcutaneous nodules. Torg-Winchester syndrome and NOA syndrome are caused by loss of function mutations in the matrix metalloproteinase 2 gene (MMP2). This gene encodes type IV collagenase also known as gelatinase A.


Genes(s)

MMP2

Disease Group(s)

Skeletal disorders

MIM

259600

Billing

81479 x 1

Ordering

Test Code
1676

Additional Test Codes
1353 —Next Generation Sequencing Only, 1354 — Deletion / Duplication Only

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.