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Gene Tests Center
    Genetic testing can help physicians understand, characterize and manage diseases. Using genetic testing, doctors can confirm or rule out a suspected disease, make pre-symptomatic prediction on an appareatly healthy family member and assist couples with family planning.
   A genetic disorder is a disease caused by abnormalities in an individual’s genetic material (genome). There are four different types of genetic disorders: single-gene, chromosomal, mitochondrial, and multifactorial.
    An increasing number of gene tests are becoming available. Most of them are single-gene diseases. GenePhile is one of few proficiency accredited laboratories that can determine the mutations of genetic diseases.  

    GenePhile can serve to determine the mutation of a patient. As the benefits of genetic testing become evident and adopted as a routine part of medical care, it is important that physicians receive the information they need to guide their patients. Physicians will benefit from an understanding of how and when to use genetic testing, as well as how to communicate this information to their patients in order to ensure that they can make informed decisions. Because genetic diagnoses can go beyond delivering a diagnosis to a symptomatic individual, to actually "predicting" if a healthy individual is likely to develop symptoms in the future, these diagnoses must be treated with great care. Before and after testing, the physicians or genetic counselors must give sufficient information to the clients to understand the necessity, benefits, limitations and risks of the test. Clients under 18 years old should have the agreement of their parents or guardian before requesting a test. 

Sample collection:
     Whole blood: CBC tube (with anti-coagulation reagent): 3 c.c.
d blood: CBC tube (with anti-coagulation reagent): 3 c.c.

Prenatal Sampling
    Chorionic Villus Sampling (CVS):  Guided by an ultrasound, a doctor inserts a thin needle through the pregnant woman's abdomen to obtain chorionic villi. Chorionic villi are tiny pieces of tissues attached to the chorionic sac. The chorionic villi and the fetus originate from the same fertilized egg, and have the same genetic makeup. This procedure can be done earlier in pregnancy from the 10th-14th week.
     Amniocentesis: This procedure is performed in the second trimester, anywhere from the 16th-24th week of pregnancy. During this procedure, the doctor uses ultrasound to guide a thin needle, through the abdomen to enter the uterus. Usually 5-10ml of amniotic fluid is enough for testing. The procedure-associated miscarriage rate is less than 2/1000. Other minor side effects may include cramping, leaking amniotic fluid, and vaginal spotting. Most of these usually resolve spontaneously.

     Place 0.5cm3 tissue block in a clean container, do not soak any solution. Seal well and send by express delivery at ambient temperature.

Buccal Cells - Oral Swab
     Prepare 1-2 swabs per patient. 
Open mouth, use a well-labeled swab to wipe both sides of cheek, inside-out and upside-down. Air dry to prevent moldy. <
Details of Sampling method>
  ! Don't touch the cotton edge of swab
  ! Avoid contamination by another swab
  ! Air Dry and Pack separately with envelope

Pack the samples well and send by express delivery to:
GenePhile Bioscience Laboratory
1F., No.10-1, Linsen S. Rd., Zhongzheng District, Taipei City 100, Taiwan
Please call: +886-2-33931030 for assistance.
Available tests:
Prenatal and postnatal aCGH analysis
  ISCA approved microarray system
  60,000 probes can detect micordeletions and microduplications
  High resolution(10-100 times resolution in compare to G-banding)
Blood disorders:
  α&β Thalassemia
  Hemophilia A, Factor Ⅷ
  Hemophilia B, Factor IX
  HFE gene
  Para-bombay,FUT1 gene
  ABO genotyping

Neuro/cerebellar disorders: 

  Huntington's disease, huntingtin gene
  Spinocerebellar ataxia; SCA 1,2,3,6,7,DRPLA
  Spinal muscular atrophy, SMA
  Neurofibromatosis type I, NF1 gene
  Rett syndrome/MeCP2 gene
  Tuberous sclerosis complex, TSC 1&2 gene
  Holoprosencephaly / HPE ; TGIF, SIX3, SHH, ZIC2 gene

Metabolism disorders:
  Adrenoleukodystrophy/ALD, ABCD1 gene
  GCDH gene
  Nonketotic hyperglycinemia, NKH, GLDC, AMT
  Ornithine transcarbamylase gene deficiency ,OTC gene
  Pompe disease, glycogen storage disease type II

Bone disorders:
  ACH/HCH, FGFR3 gene
  Thanatophoric dysplasia/TD, FGFR3 gene

Skin disorders:
  Incontientia pigmenti/IP, NEMO gene
  Neurofibromatosis type I, NF1
  X-Linked hypohidrotic ectodermal dysplasia

Kidney disorders:
ADPKD, PKD1 gene
  ARPKD, PKHD1 gene

Endocrine disorders:
  Androgen insensitivity syndrome,/AIS, hAR gene
  Congenital adrenal hyperplasia/CAH, CYP21B

Neuromuscular disorders:
  DMD/ BMD, dystrophin gene
  Congenital muscular dystrophy with merosin deficiency,
LAMA2 gene
Hearing / visual disorders:
  Connexin 26 gene (GJB2) & mitochondrial A1555G
  Congenital red-green color blindness (Protan&Deutan)
  Congential fibrosis of extraocular muscules Type I, CFEOM 1
X-Linked juvenile retinoschisis, XLRS1 gene

Fragile X syndrome, FMR1 gene
  Chromosome variants, STR analysis
  Parder-Willi / Angelman syndrome
  Y deletion, azospermia, Male infertility, azoospermia

  CMV PCR test
  Toxoplasma gondii, TG
  Familial adenomatous poliposis/FAP, APC gene
  Hereditary angioedema /HAE , C1NH gene
  Van der Woude syndrome/Popliteal pterygium syndrome, IRF6 gene

Referral form
Subsidy form for Parents

Subsidy form for Prenatal diagnosis


Single-gene disease:
This disease is caused by changes or mutations that occur in the DNA sequence of one gene. Genes code for proteins, which make up the majority of our body parts and carry out the daily activities of our cells and our body. When a gene is mutated, its protein product can no longer carry out its normal function, and a disorder occurs. There are more than 10,000 known single-gene disorders. Some examples are thalassemia, hemophilia, DMD/BMD, Huntington’s disease, and Spinocerebellar ataxia.

Genetic Counseling:

If you have or are suspected to have a genetic disease, your doctor would refer you to a genetic counselor or medical geneticist. With specialized training, they can give information, answer questions, and offer support to you. In case you need further testing, the doctor may perform necessary procedures or tests or refer you to another specialized doctor.

Ko's Obstetrics and Gynecology Clinic
1F., No.10, Linsen S. Rd., Zhongzheng District, Taipei City 100, Taiwan (R.O.C.)
Counter02-33933939 ext.9     DNA Lab02-33931030   Cytogenetic Lab02-23921013

Copyrights 2005 by GenePhile Bioscience Laboratory, Ko's OBS/GYN. All Rights Reserved.