Wednesday, July 12, 2023

Leigh Syndrome (T83G-MT-ATP6) screening, total blood

Description, Reference values, Delivery time and Method Modification

Test code: 7091
Mnemonic code: Not apply

Effective update from 24/07/2023


Leigh Syndrome (T83G-MT-ATP6) screening, total blood

Reference values: 
      Not detected.
      Leigh Syndrome is a heterogeneous disease, it can present by
      different types of inheritance: Autosomal recessive, X-Link
      or maternal (mitochondrial). The last type, is produced by
      the mutation on the sixth subunit of ATPase, T8993G/C, the
      same that produce neuropathy, ataxia and retinopathy
      pigmentosa (NARP).
Delivery time: 20 days

Method: Sequencing
Version of Test: 2

LEIGH SYNDROME · mt-ATP6 (T8993G) · HOT SPOT        
Reference values:

Attached Report         

Delivery time: 22 days

Method: HOT SPOT         
Version of Test: 3

   Find the record of the test by clicking here

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