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PMC Spondylometaphyseal dysplasia (SMD)

Up to 36 genes Turn around Time: 11 business days
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Test Description

Spondylometaphyseal dysplasia (SMD) is a rare genetic condition that affects bone growth, particularly in the spine and the ends of long bones. The panel is a genetic test developed for individuals with a clinical suspicion or diagnosis of SED.

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  • Associated Conditions
    • Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritisSpondyloenchondrodysplasia with immune dysregulationSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndromeSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeDesbuquois dysplasia, Epiphyseal dysplasia, multipleSpondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2, DeafnessWeissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1Spondylometaepiphyseal dysplasia, short limb-hand typeDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaSED, Wolcott-Rallison typeGlomerulopathy with fibronectin deposits 2Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis typeOpsismodysplasiaSpondyloepimetaphyseal dysplasia with joint laxity, type 2Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndromeSpondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5)Metaphyseal anadysplasia 1, Metaphyseal dysplasia, Spahr type, Spondyloepimetaphyseal dysplasia, Missouri typeSpondyloepimetaphyseal dysplasia Genevieve typeSpondylo-megaepiphyseal-metaphyseal dysplasiaSpondylometaphyseal dysplasia, Megarbane-Dagher-Melki typeBrachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 typeSpondylometaphyseal dysplasia with cone-rod dystrophyAnauxetic dysplasia 2Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 2Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaSpondyloepimetaphyseal dysplasia, Faden-Alkuraya typeSpondylodysplastic Ehlers-Danlos syndromeSchimke immunoosseous dysplasiaSpondyloepimetaphyseal dysplasiaSpondyloepiphyseal dysplasia tardaMetatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyHip dysplasia, Beukes type, Epileptic encephalopathy, Neurodevelopmental disorderArthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
  • Methodology

    Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)

  • Limitations

    All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

  • References
    • 1. Richards S et al. Genetics in medicine. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 2015 May;17(5):405-24 (PMID: 25741868)
    • 2. GnomAD (gnomAD)
    • 3. CSPEC (ClinGen variant classification rules registry) Criteria Specification Registry
    • 4. Normal copy number variation in healthy individuals database of genomic variants: http://dgv.tcag.ca/dgv/app/home
  • Tagged Genes

    Primary panel:

    36 genes selected