Anemia, diabetes and sensorineural hearing loss together suggest TRMA, caused by SLC19A2 mutations that block thiamine transport; sequencing confirms the diagnosis.
A clot forming inside a brain blood vessel cuts off blood flow. Covers risk factors, Factor V Leiden and prothrombin G20210A findings, and family planning.
The gland looks normal yet cannot finish making hormone, causing congenital hypothyroidism. Targeted exome sequencing points to DUOX2, TSHR, TPO or SLC26A7.
Reduced TBG can still leave thyroid hormone levels normal, so SERPINA7 sequencing is what separates this partial deficiency from other thyroid conditions.
When toe walking persists past age 2, clinicians rule out cerebral palsy, muscular dystrophy and autism. NGS panels and exome sequencing may reveal inherited causes.
Discover the role of genetic testing in diagnosing Triphalangeal Thumb (TPT) and related conditions. Learn how early detection improves treatment outcomes and family planning…
Why some people exposed to Mycobacterium tuberculosis fall ill and others do not is traced to variants such as rs4331426, CLEC4E and ASAP1, with caveats on testing.
Also called ulnar drift, ulnar deviation bends the wrist toward the ulna and is linked to rheumatoid arthritis, lupus and Costello or Bohring-Opitz syndrome.