Test Name & Code:
• Test Name: NIJMEGEN SYNDROME
• Test Code: 2425
• Test Code: 2425
Related Diseases & Genes:
Synonyms:
• “NIJMEGEN BREAKAGE SYNDROME, NBS”
• 657del5 Mutation
• SEEMANOVA SYNDROME II
• “NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE”
• “IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY”
• ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1
• 657del5 Mutation
• SEEMANOVA SYNDROME II
• “NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE”
• “IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY”
• ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1
Test Details:
• Methodology: PCR
• Performed: Everyday
• Reported: 2 weeks
• Performed: Everyday
• Reported: 2 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dsymorphology
