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In the context of genetic testing for IRDs, what is the significance of identifying gene-specific phenotype features, such as flat electro-oculography in a patient with vitelliform dystrophy and a BEST1 variant?

Which of the following results obtained off amniocentesis would not warrant UPD studies? 

Which of the following DMD results should never be interpreted in pathogenic in carriers in the absence of family studies?

What is the primary recommendation for genetic testing in children diagnosed with diabetes before the age of 6 months?

Which of the following would lead to a false negative aneuploidy FISH results? 

Extra Credit (points to be added):   Write a brief explanation of this result: Mos 47,XY,+8[10]/46,XY[10]  

All of the following are possible explanations for false positive cfDNA screening for Turner syndrome, EXCEPT?

What distinguishes HNF1B-MODY from other forms of monogenic diabetes?

Which of the following has the highest chance of resulting in a liveborn with an aneuploidy? 

Carriers of which of the following conditions may directly affect obstetrical or medical management?