Sequencing the AMPD2 gene can confirm PCH9, a rare neurodegenerative disorder marked by developmental and motor impairment, and clarify recurrence risk for families.
An ancient DRC1 gene variant, traced back three millennia, underlies PCD18 in Japanese and Korean populations; diagnosis, tailored care and counseling are covered.
Chronic sinusitis, bronchiectasis and middle ear infections mimic commoner illnesses; genetic testing pinpoints the mutations behind PCD19 when biopsy is inconclusive.
A gene panel built for PCD21 reported 81.1% sensitivity and 100% specificity and turned up 52 variants, 36 of them previously unknown, as this page describes.
Critically short telomeres scar lung tissue and impair blood cell production, and testing telomere maintenance genes sharpens diagnosis and flags relatives at risk.
Variants in more than one telomere biology gene can combine to cause this disorder, so testing may predict onset before symptoms and clarify inheritance for families.
Mirror-image placement of the internal organs can accompany this retinal dystrophy, and a genetic result shows whether the two findings share a common cause.
De novo ADNP mutations cause developmental delay, intellectual disability and distinct facial features, and the syndrome accounts for about 0.17% of ASD cases.