achondroplasia

application:
GENE: FGFR3
Chromosomal location: 4p16.3
MODE OF INHERITANCE: Autosomal dominant
Achondroplasia is characterized by abnormal growth of bones, resulting in short stature with disproportionately short arms and legs and large head. Over 99% of individuals with achondroplasia have one of two mutations in FGFR3. Achondroplasia is inherited in autosomal dominant fashion. Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a mutation of the gene.

 

Material: Whole Blood (EDTA), Liquor.
Sample volume: 3 ml.
Patient prepare: fasting not required
Observations: -Give medication used by the patient.
Storage: refrigerated (2-8 ° C).
Stability: 07 days.
Methodology: Sequencing mutation G1138A - Blood
Sequencing mutation G1123T - Liquor
Delivery time: 15 working days.
Material transportation: the material must be transported chilled (dry ice) in styrofoam boxes.
Reciving deadline: 24 hours after submission.
Exam code: G-100