PERRAULT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

LabGenetics
Caja de PERRAULT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de PERRAULT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

The Perrault Syndrome panel is designed to diagnose a condition characterized by congenital sensorineural hearing loss in both sexes and premature ovarian failure in women. The genetic alterations affect genes related to mitochondrial function and protein translation, resulting in a complex neurosensory and endocrine phenotype. Its detection allows for confirmation of the clinical diagnosis, optimization of reproductive follow-up, and appropriate family counseling. Genes analyzed: CLPP, HARS2, HSD17B4, LARS2, TWNK.

Other tests

Preventive health test - AboutMe EXOME

Preventive health test - AboutMe EXOME

545,00€

NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical

NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical

600,00€

Custom sequencing panels (1 to 15 genes)

Custom sequencing panels (1 to 15 genes)

660,00€