Alpha-Thalassaemia (α-Thalassemia) is one of the most common inherited single gene disorders in hemoglobinopathies. In the α-Thalassaemia condition, deficiency of the α-globin synthesis which resulted in ineffective erythropoiesis and haemolysis. The clinical severity of these genetic abnormalities are ranging from the silent alpha carrier (-α/αα) to Hb-Barts fetal hydrops (hydrops fetalis) (--/--). Moreover, in the case of having three of the four α-globin genes [--/-α] are deleted and it will result in haemoglobin H disease, which causing moderate to severe anemia. α-Thalassemia mutations can be classified into several types such as gene deletion (resulted in inefficient α-globin synthesis) or mutation in the α-globin gene (resulted in down-regulation α-gene expression). It has been estimated that 3-5% of the Southern Chinese population are carriers of α-Thalassemia in 3 most common deletion forms. Therefore, screening of α-Thalassaemia carrier or prenatal testing for pregnancies is highly recommended.

Test rationale
Investigation of the most common deletion alleles which have been found in more than 96% of alleles associated with α-Thalassemia in Hong Kong population.

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Beta-Thalassemia (β-thal) is the most common disease among hemoglobinopathies found in the Mediterranean area and estimated to affect 5 to 10 percent of the Asia and Southeast Asian population. It is caused by mutations at the β-globin gene (HBB) loci resulting in defective (+) or absent (0) production of the globin chains in the haemoglobin tetramer. Depending on the clinical severity of the disease, the clinical phenotypes can be classified as β-Thalassaemia major, intermedia and minor. β-Thal minor patients do not have obvious symptoms and can have a normal life. However, if both couples are carriers, their offspring might be affected. There are 25% chance of their child having β-Thalassemia major; a 50% chance of having β-Thalassemia minor and a 25% chance of being normal. The affected fetus would develop severe anaemia in infancy and transfusion-dependent phenotype. Therefore, testing of β-Thal mutation is recommended for investigation of hemoglobinopathies and prenatal diagnosis to reduce the incidence of β-Thal major.

Test rationale
Investigation of mutations at β-globin gene (HBB) commonly found (>95%) in the Chinese and Southeast Chinese population

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Achondroplasia is one common form of dwarfism (short stature) due to an autosomal dominant mutation. It occurs in approximately 1 in 15,000 live births. More than 80% of affected individuals with achondroplasia are caused by de novo gene mutation (i.e. parents with normal stature). De novo gene mutations are associated with advanced paternal age [Defined as over age 35 years]. These mutations appear to come from de novo event during spermatogenesis in the unaffected father. The penetrance of the FGFR3 gene is 100%, meaning individuals who have a single copy of the altered fibroblast growth factor receptor 3 gene (FGFR3) will have achondroplasia.
Predominant mutations leading to approximately 99% of achondroplasia are point mutations at the fibroblast growth factor receptor 3 gene (FGFR3) located on the short arm of chromosome 4. These major mutations of the FGFR3 gene resulting in substitution of nucleotides. Such mutations can be interpreted as gain of function mutation that activate the negative growth control exerted by the FGFR3 pathway.
Individuals with achondroplasia have short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia. Hyperextensibility of the knees and other joints is common, too.

Test rationale
Investigation of major mutations of the FGFR3 gene

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Fragile X syndrome, one of the most common sex-linked genetic disorders associated with mental impairment that affects approximately 1 in 4,000 males and 1 in 6,000 females. Approximately, 1 in 350 females and 1 in 1,000 males carry pre-mutation alleles.
The mutation leading to Fragile X syndrome is an expansion of an unstable trinucleotides repeat sequence located in the FMR1 gene and abnormal methylation at the neighboring CpG island of the promoter region. The affected FMR1gene leads to inactivation of the FMR1 gene product, known as the fragile X mental retardation protein (FMRP). Brain development in the absence of this protein leads to cognitive effects, learning and memory problems, attention deficit, hyperactivity and autistic behaviors. Many children go undiagnosed with Fragile X.

Test rationale

1. Investigation of tri-nucleotide repeat expansion in the Fragile X (FMR1) gene on the X chromosome
2. Methylation status at the neighboring CpG island leading to the loss of fragile X mental retardation protein (FMRP) product

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Testing for mutations involved in coagulation and folate metabolism is useful during pregnancy due to their association with an increased risk for venous thrombosis, recurrent pregnancy loss and fetal abnormalities. There is a growing view that inherited or acquired thrombophilia would predispose women towards adverse pregnancy outcomes which included recurrent pregnancy losses, intrauterine fetal death, intrauterine growth retardation, preeclampsia and placental abruption.

Test rationale

Investigate three genes for 4 mutations associated with inherited thrombophilia:

1. Factor V (FV Leiden)
   Factor V Leiden is the most common inherited form of thrombophilia
2. Factor II (Prothrombin)
   Second most common cause of inherited thrombophilia
3. Methylenetetrahydrofolate Reductase (MTHFR)
   MTHFR mutation both in children and mother is associated with increased risk of neural tube defects

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Testing for mutations involved in coagulation and folate metabolism is useful during pregnancy due to their association with an increased risk for venous thrombosis, recurrent pregnancy loss and fetal abnormalities. There is a growing view that inherited or acquired thrombophilia would predispose women towards adverse pregnancy outcomes which included recurrent pregnancy losses, intrauterine fetal death, intrauterine growth retardation, preeclampsia and placental abruption.

Test rationale

Investigate three genes for 4 mutations associated with inherited thrombophilia:

1. Factor V (FV Leiden)
   Factor V Leiden is the most common inherited form of thrombophilia
2. Factor II (Prothrombin)
   Second most common cause of inherited thrombophilia
3. Methylenetetrahydrofolate Reductase (MTHFR)
   MTHFR mutation both in children and mother is associated with increased risk of neural tube defects

Please contact us for more information.

Testing for mutations involved in coagulation and folate metabolism is useful during pregnancy due to their association with an increased risk for venous thrombosis, recurrent pregnancy loss and fetal abnormalities. There is a growing view that inherited or acquired thrombophilia would predispose women towards adverse pregnancy outcomes which included recurrent pregnancy losses, intrauterine fetal death, intrauterine growth retardation, preeclampsia and placental abruption.

Test rationale

Investigate three genes for 4 mutations associated with inherited thrombophilia:

1. Factor V (FV Leiden)
   Factor V Leiden is the most common inherited form of thrombophilia
2. Factor II (Prothrombin)
   Second most common cause of inherited thrombophilia
3. Methylenetetrahydrofolate Reductase (MTHFR)
   MTHFR mutation both in children and mother is associated with increased risk of neural tube defects

Please contact us for more information.

Testing for mutations involved in coagulation and folate metabolism is useful during pregnancy due to their association with an increased risk for venous thrombosis, recurrent pregnancy loss and fetal abnormalities. There is a growing view that inherited or acquired thrombophilia would predispose women towards adverse pregnancy outcomes which included recurrent pregnancy losses, intrauterine fetal death, intrauterine growth retardation, preeclampsia and placental abruption.

Test rationale

Investigate three genes for 4 mutations associated with inherited thrombophilia:

1. Factor V (FV Leiden)
   Factor V Leiden is the most common inherited form of thrombophilia
2. Factor II (Prothrombin)
   Second most common cause of inherited thrombophilia
3. Methylenetetrahydrofolate Reductase (MTHFR)
   MTHFR mutation both in children and mother is associated with increased risk of neural tube defects

Please contact us for more information.

NOT FOUND

Test rationale

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Down syndrome is the most common genetic cause of developmental abnormality. Individuals with Down syndrome typically have varies severity of mental retardation together with distinctive physical characteristics and health problems. The likelihood that a baby will be born with Down syndrome increases with maternal age. In the general population, fewer than 1 in 1,000 children which have Down syndrome born to mothers who are under the age of 30 and the odds increase to 1 in 20 for women pregnant at age 45.

The first-trimester maternal serum Down syndrome screening test employs the following parameters for the risk assessment:

• Maternal age
• Pregnancy-associated plasma protein-A (PAPP-A) level
• Free beta human chorionic gonadotropin (free b-hCG) level
• Nuchal translucency (NT) measurement

PAPP-A is a placental protein present in lower concentrations in Down syndrome affected pregnancies when compared to unaffected pregnancies. The hyperglycosylated form of human chorionic gonadotropin (hCG) is produced by cytotrophoblasts during embryonic implantation and trophoblast invasion of the uterine wall. Levels tend to be increased in Down syndrome affected pregnancies. The combination of nuchal translucency (NT), maternal serum PAPP-A and free b-hCG improves the detection of first trimester Down syndrome screening to 90%.

Test rationale

Determine the maternal serum level of PAPP-A and free b-hCG protein markers and combine the maternal age and NT measurement to calculate the risk assessment for Down syndrome and Trisomy 18.

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Cervical cancer is one of the most common cancers in female and is now known to be caused by certain types of Human Papilloma Virus (HPV). HPV virus lives in the skin or mucous membranes, many HPV infections might remain asymptomatic and most of the individuals do not know they are being infected. However, when an individual becomes infected with HPV, and if the virus cannot be eliminated, abnormal cells might develop in the lining of the cervix. This persistent infection is known to interfere with critical cell cycle pathways for normal cells development and ultimately resulted in cervical cancer. Hence, early detection with genotyping, continuous monitoring in conjunction with cervical cytology can effectively prevents the development of cancer.

Test rationale

Detection and genotyping of 33 HPV subtypes, which accounts for about 97.8% of HPV infection in the general population, using molecular genotyping approach.

• Sixteen low-risk group : 6, 11, 40,61, 42, 43,44, 54,55, 70, 57,71, 72, 81, 26 & 84
• Seventeen high-risk group: 16, 18, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66,68, 73 & 82

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The HPV oncogene mRNA test is dedicated to supplement the limitations of HPV DNA test and Pap smear. It detects the messenger RNA (mRNA) transcripts of two viral oncogenes, namely E6 and E7 genes, of six most harmful HPV subtypes: 16, 18, 52, 53, 58 and 68. The gene products of the two viral oncogenes in each high-risk subtype exert similar carcinogenic effects in vivo. They are found to induce degradation of p53 protein, inactivation of RB protein and a cascade of events in cervical cells that result in the loss of tumor suppression ability and defective cell cycle control. These events subsequently trigger the development of cervical dysplasia.

Integration of HPV DNA into the cellular genome is a crucial event of cancer development. It results in high level expression of the HPV oncogenes mRNA. In HPV-associated lesions, transcriptional activity of HPV mRNA is always present. By detecting the mRNA transcriptional activities of the HPV oncogenes, this test is able to identify critical infections that are progressing to precancerous lesions and carcinoma. Study suggests that HPV mRNA test could serve as a secondary marker which increases the positive predictive value for patients who are positive for HPV DNA test.

Test rationale

High-risk HPV subtypes 16, 18, 52, 53, 58 and 68 cause more than 76% of all cervical cancers. This test uses reverse transcriptase polymerase chain reaction (RT-PCR) technique to detect for the mRNA transcripts of viral oncogenes in these six HPV subtypes.

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DNA (Deoxyribonucleic acid) is found in almost all the cells that present in the body. This contains the genetic instructions used in the development and functioning of our body. A child will receive half of his/her DNA from the biological mother and half from the biological father. No two persons have exactly the same DNA make up except for identical twins.

Test rationale

If the alleged father is the biological father, the DNA test will be confirmed with a probability of 99.9%. If the alleged father is in fact not the case, then the probability of paternity will be 0%.

Important Notice

Difference between "Private" and "Legal" DNA tests:

The private (Non-legal) DNA tests are for personal use only and it is not legally bind. For legal binding cases, DNA samples collection would be carry out by profession, and a chain of custody would be established.

The chain of custody process is what makes DNA test results legally defensible in courts. It involves three major issues:

1. The tested parties are properly identified when their samples are collected. (Verified and photocopied of the ID document and the individual is photographed).
2. The samples are collected by an independent third party, who has no personal interest in the outcome of the test and witness by another third party.
3. The samples are securely packaged at the collection site, and carefully inspected upon receipt for any evidence of tampering.

Please contact us for more information.

DNA (Deoxyribonucleic acid) is found in almost all the cells that present in the body. This contains the genetic instructions used in the development and functioning of our body. A child will receive half of his/her DNA from the biological mother and half from the biological father. No two persons have exactly the same DNA make up except for identical twins.

Test rationale

If the alleged father is the biological father, the DNA test will be confirmed with a probability of 99.9%. If the alleged father is in fact not the case, then the probability of paternity will be 0%.

Important Notice

Difference between "Private" and "Legal" DNA tests:

The private (Non-legal) DNA tests are for personal use only and it is not legally bind. For legal binding cases, DNA samples collection would be carry out by profession, and a chain of custody would be established.

The chain of custody process is what makes DNA test results legally defensible in courts. It involves three major issues:

1. The tested parties are properly identified when their samples are collected. (Verified and photocopied of the ID document and the individual is photographed).
2. The samples are collected by an independent third party, who has no personal interest in the outcome of the test and witness by another third party.
3. The samples are securely packaged at the collection site, and carefully inspected upon receipt for any evidence of tampering.

Please contact us for more information.

The Y-chromosome is passed from father to son and has an infrequent mutation rate, it remains the same throughout many generations. Therefore, the Y-STR (Short Tandem Repeat) Paternity Y-chromosome Exclusion DNA test is a powerful tool for the determination of whether two or more males are related through their paternal lineage.

Test

A set of Y-chromosomal specific (Y-STR) DNA markers are being tested simultaneously for the Y-chromosomal positive case against the putative father Y-chromosomal DNA profile for determination of the possible paternal lineage to suggest a biological relationship.

Important Notice

This test serves for Non-legal binding case only

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