• Medicalport Hastanesi, Kurtuluş Caddesi, No:70, GİRNE

OUR TEST OPTIONS

OUR TEST OPTIONS


Our wide portfolio can help you choose the most suitable screening test is as followed: Always consult your doctor before deciding which test is right for you.

Test Name

Region of Analysis

Screens for aneuploidies of chromosomes 21, 18, 13 and includes determination of fetal sex (optional).

Screens for aneuploidies of chromosomes 21, 18, 13, sex chromosomes (X and Y) and includes determination of fetal sex. (optional).

 

 

DiGeorge

Screens for aneuploidies of chromosomes 21, 18, 13, sex chromosomes (X and Y) and includes determination of fetal sex. (optional). Scans the trisomy of chromosomes 9 and 16.  Detects the presence of microdeletion syndrome: 22Q11.2- DIGEORGE SYNDROME

 

Screens for aneuploidies of chromosomes 21, 18, 13 and sex chromosomes, as well as trisomy of chromosomes 9 and 16. The test also detects the presence of the 6 most common microdeletion syndromes. (22Q11.2 SYNDROME (DIGEORGE SYNDROME, VELOCARDIALFACIAL) 1P36 DELESION SYNDROME ANGELMAN'S SYNDROME (15Q11.2) PRADER-WILLI SYNDROME (15Q11.2) CRI DU CHAT SYNDROME (5P) WOLF-HIRSCHHORN SYNDROME (4P 9' and 16K)

It screens for aneuploidies and structural chromosomal changes (segmental deletions and duplications) of each chromosome.

Screens numerical and structural anomalies in all chromosomes and 9 microdeletions; 22Q11.2 SYNDROME (DIGEORGE SYNDROME, VELOCARDIALFACIAL) 1P36 DELESION SYNDROME ANGELMAN'S SYNDROME (15Q11.2) PRADER-WILLI SYNDROME (15Q11.2) CRI DU CHAT SYNDROME (5P) WOLF-HIRSCHHORN SYNDROMUE (11Q11. 3 DELETION) LANGER-GIEDION SYNDROME (8Q24.11-Q24.13 DELETION) SMİTH-MAGENIS SYNDROME (17P11.2 DELETION)

 

GeneSafe DeNovo

It is the first non-invasive prenatal test to screen for both de-novo and inherited single gene disorders.

 

25 Gene Screening: Skeleton dysplasia, congenital heart defect, multiple congenital malformation syndromes, autism, epilepsy, mental disability, such as neurodevelopment disorders such as Schinzel-Gedion syndrome and Bohring-opitz syndrome, such as rare autosomal dominant mendelian disorders such as de novo mutation disorders. Performs screening of severe genetic diseases caused by gene mutations.

 

GeneSafe

It is the first non-invasive prenatal test to screen for both de-novo and inherited single gene disorders.

 

5 Recessive Disease Screening

CYSTIC FIBROSIS; GEN CFTR

AUTOSOMAL RECESSIVE HEARING LOSS- TYPE1A; GEN CX26 (GJB2)

AUTOSOMAL RECESSIVE HEARING LOSS- TYPE1B; GEN CX30 (GJB6)

BETA thalassemia; GENE HBB

SICKLE CELL ANEMIA; GENE HBB

GeneSafe

 

 

GENESAFE DE NOVO + GENESAFE INHERITED

NIPT KARYO + GENESAFE COMPLETE

NIPT KARYO PLUS + GENESAFE COMPLETE