aimosti

Carrier conditions, read honestly

Each page covers one recessive condition: what it is, how carrier status is inherited, and, most importantly, what a file you already own can and cannot establish about it. We never issue carrier status from a genotyping chip: where an array happens to type one position, that is not a rule-out of the rest of the gene. So these pages say plainly where the answer needs sequencing and where it needs a clinical test instead. For everything Aimosti examines, see what we analyse.

  • Aspartylglucosaminuria (AGU) carrier: One change in AGA explains 98% of aspartylglucosaminuria in Finland. What that means for carrier status, and why no consumer chip tests for it.
  • Congenital chloride diarrhea (CCD) carrier: What SLC26A3 carrier status means for congenital chloride diarrhea, a treatable condition that is repeatedly misdiagnosed, and what your file shows.
  • Congenital nephrosis, Finnish type (CNF) carrier: What NPHS1 carrier status means for congenital nephrotic syndrome of the Finnish type, and why the Fin-major deletion is the wrong shape for a chip.
  • Non-syndromic hearing loss carrier (DFNB1): GJB2 is the most common gene behind hearing loss present from birth. What connexin 26 carrier status means, and whether a chip can see 35delG.
  • Cystic fibrosis carrier: What CFTR carrier status means, why a 23andMe or AncestryDNA chip file cannot answer the question, and what a whole-genome VCF can and cannot rule out.
  • Gaucher disease carrier: What GBA1 carrier status means, why the GBAP1 pseudogene makes this gene hard to read from any consumer DNA file, and the Parkinson's association.
  • Niemann-Pick disease type A/B carrier: SMPD1 carrier status covers Niemann-Pick types A and B. Type C is a different gene entirely. What a chip or whole-genome VCF can honestly say.
  • Northern epilepsy (CLN8) carrier: What CLN8 carrier status means for Northern epilepsy, and why the carrier frequency for this condition depends on which part of Finland you are from.
  • Phenylketonuria (PKU) carrier: What PAH carrier status means, why PKU is the condition newborn screening was built around, and why Finland has the lowest incidence in Europe.
  • Salla disease carrier: Salla disease is one of the few Finnish founder conditions a consumer test reports. What an SLC17A5 carrier result means, and what it leaves out.
  • Sickle cell & β-thalassemia carrier: HBB is the beta globin gene behind both conditions. What a carrier result means, and why a chip typing the one sickle position is not a rule-out of the gene.
  • Tay-Sachs disease carrier: What HEXA carrier status means, why carrier screening for Tay-Sachs predates DNA testing entirely, and what your own DNA file can honestly say.
  • Wilson disease carrier: What ATP7B carrier status means, and why Wilson disease sits on the medically actionable gene list while carrier status alone does not.

These pages are educational and are not medical advice. A re-analysis of a file you already own is not a substitute for clinical carrier screening.