Paula and Bobby
Parents of Lillie
Anosmia, Isolated Congenital (ANIC)
What is Anosmia, Isolated Congenital (ANIC)?
Two unrelated Iranian families, with congenital anosmia, were reported by Ghadami et al., (2004). Two brothers reported by Karstensen et al., (2015) were found to have X-linked CNGA2 mutations.
Sailani et al., (2017) described six male patients from a family with isolated congenital anosmia due to hemizygous protein-truncating mutation in the CNAG2 gene. All patients had only congenital anosmia.
Anosmia - Familial Anosmia, Congenital
What gene changes cause Anosmia, Isolated Congenital (ANIC)?
Genes, locations, and inheritance modes
TENM1, Xq25 - X-Linked Recessive
CNGA2, Xq28 - X-Linked Recessive
What are the main symptoms of Anosmia, Isolated Congenital (ANIC)?
Possible clinical traits/features
Autosomal dominant inheritance, Anosmia
How does someone get tested for Anosmia, Isolated Congenital (ANIC)?
The initial testing for Anosmia, Isolated Congenital syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.