Genetic Carrier Screening

Genetic testing is the examination of an individual’s specific chromosomes or genes for any changes associated with genetic conditions. Genetic carrier testing allows the prospective parents to know whether they are the carriers (an individual who have one copy of a defective gene but typically does not show symptoms) and are at risk of passing on two defective gene copies, one from each parent, to their future child that would be affected by a disease.

 

The specific test of genetic testing recommended to the couple planning to have a baby is based on their personal and/or family history

In 2017 the American College of Obstetricians and Gynecologists (ACOG) expanded its guidelines on carrier screening for genetic disorders. ACOG recommended that all pregnant women and those considering pregnancy should receive information regarding carrier screening for cystic fibrosis, spinal muscular atrophy (SMA), Fragile X syndrome, and hemoglobinopathies (thalassemia) together with a complete blood count. Currently Jetanin offers four types of genetic carrier testing:

Alpha-thalassemia 7 deletions.
Thalassemia is a blood disorder involving abnormalities of hemoglobin production. Thalassemia is common among people of Asian, Mediterranean, Middle Eastern or West Indian, African and Hispanic descent. We offer 7 types of alpha-thalassemia deletion testing: -a3.7, -a4.2, -(a)20.5, –SEA, –MED, –FIL, –THAI.

G6PD
G6PD deficiency is an X-linked inherited disease causing hemolytic anemia. Women who carry one copy of the gene do not have symptoms but can pass G6PD deficiency to their children. A son with the diseased copy will be affected with G6PD deficiency.
We can detect 8 types of G6PD mutations: Union, Canton, Kaiping, Viangchan, Mahidol, Mediterranean, Coimbra and Vanua Lava.

Spinal muscular dystrophy
Spinal muscular atrophy (SMA) is a major cause of death in infancy. SMA is a disorder affecting the motor neurons that control muscle movement. Most forms of SMA are caused by mutation of the SMN1 gene resulting in reduced production of the SMN protein. The ACOG has recently recommended routine carrier screening for SMA in all expectant women because the severity of the disease and the high carrier frequency (1 in 25–50). SMN1 exon7 deletion constitutes about 95% of the SMA patients.
SMA screening at Jetanin for the detection of exon 7 deletion has a sensitivity of >99%.

Y chromosome microdeletion
Y chromosome microdeletion is a genetic condition where genes in particular regions of the Y chromosome that have a role in sperm production is missing. Up to 10 – 15 % of men with Azoospermia and 5-10% of men with Oligozoospermia have Y chromosome microdeletion. Oligozoospermia patients are at risk of progressive loss of spermatozoa in the ejaculate. This test helps doctor choose the best option for the treatment for the patient and whether spermatozoa retrieval by PESA (Percutaneous Epididymal Sperm Aspiration) which is a method used to extract sperms from epididymis by using a small needle, or TESE (Testicular Sperm Extraction) which performed by extracting sperms from testicular biopsy. Patients with AZFc deletion are more likely to get successful sperm retrieval by TESE compared to those with AZFa and AZFb deletion.
Jetanin offers AZFa, AZFb and AZFc deletion testing with > 99% sensitivity.

At Jetanin

• All our laboratory processes conform to ISO 15189.

• We incorporate double-witnessing in all testing steps to ensure the correctness of the results.

• As part of the Quality Assurance program we participate External Quality Assessment every year with Genomic quality assessment, genqa.org (GENQA) and the European Molecular Quality Network (EMQN).

Jetanin offers comprehensive genetic carrier testing, including alpha-thalassemia, G6PD deficiency, spinal muscular atrophy (SMA), and Y chromosome microdeletion, all with >99% sensitivity. Quality is ensured via ISO 15189 standards and annual assessments with GENQA and EMQN.