Types of Gene(s) Reason for Testing

Results Comments
Genetics Test Tested /Symptoms

WFS1 triggers a
diabetes that causes
vision and hearing
if positive, shortened life
loss. Optic nerve
expectancy between 30 to 40
atrophy and
yrs, due to nerve damage
sensorineural hearing
complications
loss are related to the
Wolfram nerve damage by
WFS1 WFS1 gene. Negative
Syndrome
Lily was suspected of
having Wolfram After a 5-year check up, Lily's
syndrome due to a optic nerve hypoplasia
diagnosed optic nerve remains stable while an optic
hypoplasia and an nerve atrophy test was
undiagnosed hearing inconclusive.
issue.
1. MODY is a monogenic type
of diabetes. It takes only one
parent carrier of a MODY
gene to pass it on to an
offspring.
HNF4A, GCK,
2. There are other MODY
HNF1A, PDX1,
Lily had an early onset genes under research and
HNF1B,
MODY (1-14) of diabetes at age 15, investigation. Lily's genetic-
NEUROD1,
Mature Onset was negative for the based type of diabetes can be
KLF11, CEL, Negative
of Diabetes of Type 1 auto-immune categorized as MODY X.
PAX4, INS,
the Youth antibodies and was 3. MODY 2 or the GCK gene
BLK, ABCC8,
non-obese. is the only type that doesn't
KNCJ11,APPL1,
cause nerve damage.
GLUD 1, HADH
4. Insulin medication doesn't
apply for all types of MODY
as it can cause even more
damage.
5. The right treatment

To check if Lily has a

defective chromosome Lily doesn't have any
Chromosomal causing congenital duplication or deletion of any
46
Microarray anomalies, neuro- Negative chromosome. It was an
Chromosomes
Assessment developmental alternative genetic testing to
disorders and non- diagnose MODY.
autoimmune diabetes.

To check protein
coding regions of Lily's
genome which is a
molecular basis of a
The exome makes up only
genetic disorder.
1.5% of the whole human
Whole exome
Whole Exome 20,000 Exome genome, however ALL protein
sequencing test No result yet
Sequencing Genes coding genes are found in the
applies to Lily
exome. It has a 30% detection
because she is about
success.
to exhaust other
currently available
genetic testing
options.