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IllnessFactor V + factor VIII deficiency, combined

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Summary

Short information

Two curated single gene sequence analyses according to the clinical suspicion Factor V + VIII deficiency, combined

ID
FP2366
Number of genes
2 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
2,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LMAN11533NM_005570.4AR
MCFD2441NM_001171506.2AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_FP2366

 

Synonyms
  • Alias: Familial multiple coagulation factor deficiency I (LMAN1, MCFD2)
  • Alias: Multiple coagulation factor deficiency I (LMAN1, MCFD2)
  • Combined factor V + VIII deficiency (LMAN1, MCFD2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined