TMEM70 Gene Analysis (Mitochondrial Complex V Deficiency, Nuclear Type 2) – Genetic Test in UAE | 2800 AED | DHA-Licensed

The TMEM70 Genetic Test analyzes the complete coding sequence of the TMEM70 gene to detect pathogenic variants causing Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2, a severe autosomal recessive disorder presenting in the neonatal period. This test is clinically indicated for infants exhibiting hypotonia, lactic acidosis, hypertrophic cardiomyopathy, and failure to thrive — hallmarks of mitochondrial energy failure. Early molecular confirmation enables timely initiation of metabolic rescue protocols, avoidance of mitochondrial-toxic medications, and accurate genetic counselling for family planning. Without this test, affected infants may face diagnostic odysseys averaging 6–12 months, during which irreversible neurological damage can occur.

Sample collection is performed via our VIP mobile phlebotomy service (8 AM–11 PM, 7 days a week) using a minimally traumatic approach: for infants, a heel-stick blood drop on an FTA card is the preferred method, while older children and adults may provide 3–5 mL of whole blood in an EDTA tube. All collections are conducted by DHA-licensed paediatric phlebotomists trained in neonatal capillary sampling. The FTA card method requires only a single drop of blood, air-dried for 30 minutes, and transported at ambient temperature — making it ideal for fragile neonates. A mandatory pre-test genetic counselling session (telephonic or in-person) must be completed prior to sample collection to document the three-generation pedigree and obtain informed consent as mandated by UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.

The TMEM70 Genetic Test delivers a comprehensive clinical report within 3 to 4 weeks from sample receipt, and every result includes a complimentary telephonic post-test guidance session with a clinical genetic counsellor to interpret findings in the context of your child's condition. Results are classified according to ACMG/AMP variant interpretation guidelines as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign. If a pathogenic variant is confirmed, our multidisciplinary team — including a paediatric neurologist, metabolic specialist, and genetic counsellor — convenes to formulate a personalized management plan. Negative results do not exclude mitochondrial disease and may warrant broader testing such as whole exome sequencing (WES) or mitochondrial genome analysis, which our laboratory can facilitate seamlessly. All genetic data is protected under UAE PDPL and stored on sovereign servers with strict access controls.