Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320, Autosomal recessive; SMDMDM (Autosomal recessive … see more Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320, Autosomal recessive; SMDMDM (Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type) (PAM16 gene) (Sequence Analysis-All Coding Exons) (Prenatal)  see less
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000579555.1
INHERITED DISEASEMUSCULOSKELETAL
Registered in GTR: 2020-05-19
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Diagnosis
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Genes (1): Help
PAM16 (16p13.3)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320, Autosomal recessive; SMDMDM (diagnosis/ clinical …
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
14650
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320, Autosomal recessive; SMDMDM (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity of this method was reported as 99,9996%. This value may change in some special DNA regions
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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