Invitae Cerebral Creatine Deficiency Panel
Use
The Invitae Cerebral Creatine Deficiency Panel analyzes three genes associated with defects in creatine biosynthesis or transport. It is used for diagnosing conditions like AGAT deficiency, GAMT deficiency, or creatine transporter deficiency in patients with suggestive symptoms. Genetic testing can confirm the diagnosis and assist in guiding treatment and management decisions.
Special Instructions
The test examines relevant genes affecting creatine biosynthesis or transport, which are implicated in conditions leading to cerebral creatine deficiency. Specimens required for testing include whole blood in EDTA tubes, with alternate options of saliva, buccal swab, or genomic DNA.
Limitations
The analysis is limited to clinically important regions of each gene, including coding exons and adjacent intronic sequences. Variants outside these regions, structural rearrangements, and certain complex sequence variants may not be detected. The test may not resolve mosaicism, phasing, or certain mapping ambiguities. Rarely, single-exon copy number changes may not be detected due to sequence properties or data quality.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)