NX GEN SEQ, 4H SYNDROMEÂ
4H syndrome is a genetic disorder that displays an autosomal recessive inheritance pattern. It is characterized by hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is caused due to mutations in POLR3A and POLR3B genes. These patients suffer from ataxia, dysarthria, delayed dentition & normal puberty development.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 40 Working days
Special Instruction: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Price : ₹ 20000.00
Parameters
- NX GEN SEQ 4H SYNDROME