IllnessFibrodysplasia ossificans progressiva, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Fibrodysplasia ossificans progressiva, differential diagnosis, comprising 6 curated genes according to the clinical signs

FP9339

Number of genes

6 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
11,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ACVR1	1530	102576	NM_001105.5	AD
EXT1	2241	608177	NM_000127.3	AD
EXT2	2157	608210	NM_207122.2	AD
GNAS	1185	139320	NM_000516.7	AD
PTPN11	1782	176876	NM_002834.5	AD
ROR2	2832	602337	NM_004560.4	AD, AR

Informations about the disease

Synonyms

Alias: Myositis ossificans progressiva (ACVR1)
Alias: Münchmeyer-Syndrom (ACVR1)
Alias: Progressive Ossifying Myositis (ACVR1)
Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
Allelic: Brachydactyly, type B1 (ROR2)
Allelic: Chondrosarcoma (EXT1)
Allelic: LEOPARD syndrome 1 (PTPN11)
Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
Allelic: Noonan syndrome 1 (PTPN11)
Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
Exostoses, multiple, type 1 (EXT1)
Exostoses, multiple, type 2 (EXT2)
Fibrodysplasia ossificans progressiva (ACVR1)
McCune-Albright syndrome, somatic, mosaic (GNAS)
Metachondromatosis (PTPN11)
Osseous heteroplasia, progressive (GNAS)
Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
Pseudopseudohypoparathyroidism (GNAS)
Robinow syndrome, AR (ROR2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined