Apert Syndrome - Targeted Mutation Analysis

Apert Syndrome - Targeted Mutation Analysis

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Rs.4,000.00
People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. It is characterized by a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. Certain fingers or toes may be fused or webbed. 

Targeted mutation analysis of the gene FGFR2 is able to detect a majority of pathogenic variants in Apert Syndrome.
Sample Type
2 mL EDTA Blood
Turnaround Time (days)
10 days
Genes
FGFR2 c.755_766delCGinsTT c.755CtoG c.758CtoG c.756_758delGCCinsCTT
Disorders
Apert Syndrome
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Product Details
- Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. 
- Apert syndrome is characterized by a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. 
- Certain fingers or toes may be fused or webbed. 
- Affected children may also have intellectual disability.
- The severity of symptoms varies between individuals
- Apert syndrome almost always results from new genetic changes (mutations) that occur randomly. 
- Rarely, it is inherited in an autosomal dominant pattern
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