Genetic TestsRubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis)

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Test Name & Code:
• Test Name: Rubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis)
• Test Code: 3616
Synonyms:
• RUBINSTEIN SYNDROME
• BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
• BROAD THUMB-HALLUX SYNDROME
• CREB-BINDING PROTEIN; CREBBP
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology
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