Genetics/ DNA Diagnostic Laboratary Report
Cockayne (CSB) Syndrome/ ERCC6 Analysis DNA
Result: Five Variants were identified in the ERCC6 gene by Sanger sequencing.
IMPRESSION: NORMAL
Syukur Alhamdulillah..
Ini adalah beberapa baris ayat daripada full report yang diterima IJN drpd Children's Hospital Boston Dept sebln yg lepas. Walaupun report ni diberikan oleh Nurse in advanced ketika menunggu giliran Geneticist IJN, hanya word IMPRESSION: NORMAL tu je yang dpt difahami. Yang membuatkan kami berdua sgt2 relieved pada saat tu.
By analysis, my Nur Zahra Soufiyah tidak menghidap Cockayne Syndrome yang berpunca daripada mutation gene ERCC6 mcm yang di diagnosed by IJN dulu.
Syukur dan terima kasih buat sahabat2 yang sentiasa mendoakan kami.
We had second diagnosis yang Geneticist buat: Mitochondrial Disease
The Geneticist now planning to run 1 more DNA Test using my 2nd Angel skin tissue n will be send to one of Hospital in Netherlands. Will cost us same as the 1st test dulu.
This time, he will do some studies in advance of the medical history of 2nd Angel before sending the DNA sample.
This time, it will be a long long journey for us since the Mitochondria consist of several enzymes packages which is more complicated n complex to be tested.
