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

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Leigh Syndrome (T83G-MT-ATP6) screening, total blood Reference values:                 Not detected.             OBSERVATIONS:       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

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