GeneTech offers one of the most comprehensicve test profiles for genetics and genomics testing in Fertility Genomics, Mother & Child Genomics, Specialty Genomics, and Personal Genomics.
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GeneTech is a pioneer in Fertility genetics and genomics offering services to Fertility clinics.
Pregnancy Related
All Mother & Child
AFP on Amniotic Fluid
Amniotic fluid AFP (alpha-fetoprotein) test measures the concentration of AFP in the amniotic fluid surrounding the fetus to screen for neural tube defects (NTDs) like spina bifida and anencephaly, and other potential fetal abnormalities.
Alpha Thalassemia is caused by impaired production of Alpha globin which is a part of hemoglobin molecule. The severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. The test identifies pathogenic variants of HBA1 and HBA2 genes associated with Alpha Thalassemia phenotype or carrier status
Alpha Thalassemia is caused by impaired production of Alpha globin which is a part of hemoglobin molecule. The severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. The test identifies pathogenic variants of HBA1 and HBA2 genes associated with Alpha Thalassemia phenotype or carrier status
Alpha Thalassemia is caused by impaired production of Alpha globin which is a part of hemoglobin molecule. The severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. The test identifies pathogenic variants of HBA1 and HBA2 genes associated with Alpha Thalassemia phenotype or carrier status
Amniotic fluid is a clear, slightly yellowish liquid that surrounds the unborn baby (fetus) during pregnancy. Amniocentesis is an ultrasound guided sterile proceedure performed by experienced radiologits to retrive 20-30ml of the amniotic fluid from the womb. The fluid which contains fetal cells is used in the genetic lab to test for genetic abnormalities. It is done between 16-22 weeks of gestation. Amniocentesis proceedure is done at our central laboratory in Hyderabad. Prior appointment required. Call 9848041127 for details
Amniotic fluid is a clear, slightly yellowish liquid that surrounds the unborn baby (fetus) during pregnancy Amniocentesis is an ultrasound guided sterile proceedure performed by experienced radiologits to retrive 20-30ml of the amniotic fluid each from two dichorionic and diamniotic sacs. The fluid which contains fetal cells is used in the genetic lab to test for genetic abnormalities. It is done between 16-22 weeks of gestation. Amniocentesis proceedure is done at our central laboratory in Hyderabad. Prior appointment required. Call 9848041127 for details
Karyotyping is a test performed on Amniotic fluid (AF) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus.
Karyotyping is a test performed on Amniotic fluid (AF) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus. . FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
Karyotyping is a test performed on Amniotic fluid (AF) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus. . FISH 21 test is ordered in addition for a quick result to confirm or rule out Trisomy 21 (Down syndrome).
Beta Thalassemia is caused by reduced or absent synthesis of the beta chains of hemoglobin that result severe anemia. The test identifies pathogenic variants of beta Globin gene associated with betaThalassemia phenotype or carrier status
Beta Thalassemia is caused by reduced or absent synthesis of the beta chains of hemoglobin that result severe anemia. The test identifies pathogenic variants of beta Globin gene associated with betaThalassemia phenotype or carrier status
Beta Thalassemia is caused by reduced or absent synthesis of the beta chains of hemoglobin that result severe anemia. The test identifies pathogenic variants of beta Globin gene associated with betaThalassemia phenotype or carrier status
Karyotyping is a test performed on Chorionic Villi Sample (CVS) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus.
Karyotyping is a test performed on Chorionic Villi Sample (CVS) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus. FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
Karyotyping is a test performed on Chorionic Villi Sample (CVS) to identify fetal chromosomal numerical abnormalities (aneuploidy) and structural rearrangements such as inversions, insertions, translocations etc in the fetus. FISH 21 test is ordered in addition for a quick result to confirm or rule out Trisomy 21 (Down syndrome).
A canine parentage genetic test determines the biological parentage of a dog by comparing its DNA to the dam (mother) and potential sire (father) using simple oral swabs.
Canine genetic testing analyzes a dog's DNA to screen for inherited traits and potential health disorders. These tests can be used by pet owners for a better understanding of their dog's health and by breeders to make informed decisions about which dogs to pair, aiming to produce healthier offspring and preserve genetic diversity
Chorionic villi are finger-like projections of the chorionic membrane, which surrounds a developing fetus. Chorionic Villus Sampling is an ultrasound guided sterile proceedure performed by experienced radiologits to biopsy a small part of the chorionic villus which has fetal genetic component. The CVS sample is used in the genetic lab to test for genetic abnormalities. It is done between 11-14 weeks of gestation. CVS proceedure is done at our central laboratory in Hyderabad. Prior appointment required. Call 9848041127 for details
Chorionic villi are finger-like projections of the chorionic membrane, which surrounds a developing fetus. Chorionic Villus Sampling for dichorionic twins is an ultrasound guided sterile proceedure performed by experienced radiologits to biopsy a small part of the chorionic villus which has fetal genetic component. The CVS sample is used in the genetic lab to test for genetic abnormalities. It is done between 11-14 weeks of gestation. CVS proceedure is done at our central laboratory in Hyderabad. Prior appointment required. Call 9848041127 for details
Inherited germ line mutations play an important role in cancer risk or predisposition. The test uses next-generation sequencing (NGS) based exome sequencing to analysis hereditary mutations on hundreds of genes that will help in taking preventive measures to reduce the likelihood of developing cancer.
Congenital Adrenal Hyperplasia (CAH) CYP21A2 gene deletion and duplication
Congenital adrenal hyperplasia is caused by excessive adrenal androgen biosynthesis and results in virilization in all individuals and salt wasting in some individuals. The test identifies deletions and duplications in CYP21A2 gene associated with CAH
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies the mostcommon Delta 508 variant associated with Cystic fibrosis phenotype, CBAVD or carrier status
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies the mostcommon Delta 508 variant associated with Cystic fibrosis phenotype, CBAVD or carrier status
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies the mostcommon Delta 508 variant associated with Cystic fibrosis phenotype, CBAVD or carrier status
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies pathogenic variants of CFTR gene associated with Cystic fibrosis phenotype, CBAVD or carrier status
Cytic Fibrosis CFTR Full Gene Sequencing Carrier Screening
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies pathogenic variants of CFTR gene associated with Cystic fibrosis phenotype, CBAVD or carrier status.
Cytic Fibrosis CFTR Full Gene Sequencing Carrier Screening (for COUPLE)
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Males with CBAVD (congenital bilateral absence of Vas deferens also carry CFTR gene mutations. The test identifies pathogenic variants of CFTR gene associated with Cystic fibrosis phenotype, CBAVD or carrier status
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs ( >100 Kb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus.
CytoMicroArray High Resolution (CMA 750K) + FISH 13/18/21/X/Y
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs (>100Kb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus. FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
CytoMicroArray High Resolution (CMA 750K) + FISH 21
CytoMicroarray is a DNA based test performed on Maniotic Fluid Sample (AF) to identify fetal chromosomal numerical abnormalities (aneuploidy), copy number variations or CNVs (>100Kb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus. FISH 21 test is ordered in addition for a quick result to confirm or rule out Trisomy 21 (Down syndrome)
CytoMicroArray High Resolution (CMA 750K) + QFPCR 13/18/21/X/Y
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs (>100Kb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus. FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs ( >1 Mb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus.
CytoMicroArray Low Resolution (CMA 315K) + FISH 13/18/21/X/Y
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs ( >1 Mb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for rulingout aneuploidy in fetus. FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
CytoMicroArray Low Resolution (CMA 315K) + FISH 21
CytoMicroarray is a DNA based test performed on Maniotic Fluid Sample (AF) to identify fetal chromosomal numerical abnormalities (aneuploidy), copy number variations or CNVs (>1Mb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for ruling out aneuploidy in fetus. FISH 21 test is ordered in addition for a quick result to confirm or rule out Trisomy 21 (Down syndrome)
CytoMicroarray is a DNA based test performed on Amniotic Fluid (AF) to identify fetal chromosomal abnormalities, partial aneuploidies, copy number variations or CNVs ( >1 Mb micro-deletions and micro-duplications), Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD). Recommended by ACMG as first-tier test for rulingout aneuploidy in fetus. FISH 13/18/21/X/Y is ordered in addition for a quick result to confirm or rule out only Trisomy 13 (Patau Syndrome), 18 (Edward syndrome), 21 (Down Syndrome), and Sex chromosomal aneuploidy.
DNA can be stored in the laboratory for a period of 1yr for future testing. DNA of blood, CVS, amniotic fluid and salive samples can be extracted and stored safely in the lab for 1 year.
First trimester maternal serum based double marker test is done at 11-13 wks of gestation. Down Syndrome and other common aneuploidy risk is calculated by testing two biochemical markers PAPP-A and beta-hCG along with ultrasound markers such as NT/CRL and nasal bone.
First trimester maternal serum based double marker test is done at 11-13 wks of gestation. Down Syndrome and other common aneuploidy risk is calculated by testing two biochemical markers PAPP-A, beta-hCG and PLGF along with ultrasound markers such as NT/CRL and nasal bone.
Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. It is an X-linked recessive disorder where males are affected but females are unaffected carriers. The test analyses 72 exonic gene deletions and duplications to diagnose DMD or the carrier status in female.
Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. It is an X-linked recessive disorder where males are affected but females are unaffected carriers. The test analyses 72 exonic gene deletions and duplications to diagnose DMD or the carrier status in female.
Whole exome sequencing based analysis of approximately 25,000 genes and their Exons (expressing parts of genes) in the couple. The test is done to identify clinically relevant autosomal recessive variants shared by couple that are associated with genetic disorder risk in offspring.
Whole exome sequencing based analysis of approximately 25,000 genes and their Exons (expressing parts of genes) in the couple. The test is done to identify clinically relevant autosomal recessive variants shared by couple that are associated with genetic disorder risk in offspring.
Extended metabolic disorder screening of approximately 100 conditions of amnioacid and organic acid pathways including Biotinidase deficiency, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Galactosemia, G6PD, Hypothyroidism and Phenylketonuria. Offered to all new born with failure to thrive.
The Factor V Leiden mutation is associated with increased risk of pregnancy loss, particularly recurrent miscarriages and late-term pregnancy loss. The mutation can lead to an increased risk of blood clots, which may result in placental complications and fetal loss. Testing followed by management options may be considered in high risk patients.
Feline genetic testing analyzes a cat's DNA to screen for inherited traits and potential health disorders. These tests can be used by pet owners for a better understanding of their cat's health and by breeders to make informed decisions about which cats to pair, aiming to produce healthier offspring and preserve genetic diversity.
Fragile X syndrome causes moderate to severe intellectual disability. It mostly affects males and females usually have milder symptoms. The test determines methylation in FMR1 gene to diagnose the Fragile X syndrome phenotype or carrier status. Female carriers may exhibit premature ovarian insufficiency.
Fragile X syndrome causes moderate to severe intellectual disability. It mostly affects males and females usually have milder symptoms. The test determines the number of CGG repeats in FMR1 gene to diagnose the Fragile X syndrome phenotype or carrier status. Female carriers may exhibit premature ovarian insufficiency.
360 degree coverage of all genetic conditions associated with female infertility, premature ovarian insufficiency, poor response to controlled ovarian stimulation, poor oocyte quality, fertillization failure, oocute maturation defects, implantation failure, failed IUI, IVF, ICSI, recurrent pregnancy losses. More than 500 genes sequenced and analyed. ART implications, preventive management, pharmacogenomic implications are provided to facilitate patient specific individualised stimulation and treatment. Research shows improvement in IVF sucess rate based on individualised treatment based on GeneFeminaTM results
Our genetic counselling services empower patients and families by providing expert guidance on genetic conditions, their risks, and inheritance patterns. Our counsellors assess family medical histories to identify potential genetic risks and explain the benefits and limitations of genetic testing.
Our genetic counselling services empower patients and families by providing expert guidance on genetic conditions, their risks, and inheritance patterns. Our counsellors assess family medical histories to identify potential genetic risks and explain the benefits and limitations of genetic testing.
Increased HLA sharing between the couple disrupts maternal immune response and may result in recurrent pregnancy losss and recurrent implantation failure. The test will identify high risk cases to faciitate immune modulation therapies to prevent pregnancy loss and to increase implantation rate with ART.
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The test identifies deletions and duplications in F8 gene associated with Hemophilia phenotype in males and Carrier status in females. The condition is inherited in X-linked recessive manner.
Hemophilia A Deletion Duplication Carrier Screening
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. Thetest identifies deletions and duplications in F8 gene associated with Hemophilia phenotype in males and Carrier status in females. The condition is inherited in X-linked recessive manner.
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The test identifies Inversion of intron 1 and 22 in F8 gene associated with Hemophilia phenotype in males and Carrier status in females. The condition is inherited in X-linked recessive manner.
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The test identifies Inversion of intron 1 and 22 in F8 gene associated with Hemophilia phenotype in males and Carrier status in females. The condition is inherited in X-linked recessive manner.
Huntington disease (HD) is a progressive late onset disorder of motor, cognitive, and psychiatric disturbances. The test determines CAG repeats in HTT gene diagnosing normal,intermediate, pathogenic with reduced or full penetrance
Maternal KIR (Killer cell immunoglobulin-like receptor) genotyping is a test to analyze a woman's genes, which helps determine the compatibility between her immune cells and the fetus's cells.
MTHFR c.665C>T polymorphism is associated with recurrent pregnancy losses, recurrent implantation failure and fetal neural tube defects risk due to inherited thrombophilia. Testing for the mutation will facilitate preventive management.
Maternal cell contamination is one of the issues that needs to be ruled out before performing prenatal testing on fetal samples. This is to ensure that mother's DNA is not represented in the collected fetal samples such as CVS or amniotic fluid.
Non invasive prenatal test is a highly sensitive screening test offered to pregnant women with >10 weeks of gestation to identify risk for chromosomal aneuploidy. The test looks at total or partial aneuploidy of all 46 chromosomes including genetic conditions such as Down syndrome, Edward Syndrome, Patau Syndrome, Turner Syndrome etc. All High risk results must be followed up by Prenatal diagnostic proceedures.
Non Invasive Chromosomal Screening (NICS) 1 Embryo
Non invasive chromosomal screening is done to identify chromosomal aneuploidy in the embryo using spent media sample (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score.
Non Invasive Chromosomal Screening (NICS) 2 Embryos
Non invasive chromosomal screening is done to identify chromosomal aneuploidy in the embryos using spent media samples (2 samples) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score.
Non Invasive Chromosomal Screening (NICS) 3 Embryos
Non invasive chromosomal screening is done to identify chromosomal aneuploidy in the embryos using spent media samples (3 samples) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score.
Non Invasive Chromosomal Screening (NICS) 4 Embryos
Non invasive chromosomal screening is done to identify chromosomal aneuploidy in the embryos using spent media samples (4 samples) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score.
Non Invasive Chromosomal Screening (NICS) 5 Embryos
Non invasive chromosomal screening is done to identify chromosomal aneuploidy in the embryos using spent media samples (5 samples) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score.
Chromosomal analysis of couple to rule out balanced chromosome translocations associated with recurrent pregnancy losses and bad obstetric history. First tier, basic genetic test for couples with bad obstetric history.
Pre Implantation Genetic Testing for Aneuploidy (PGTA) 1 Embryo
Pre implantation genetic testing for chromosomal aneuploidy is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score
Pre Implantation Genetic Testing for Aneuploidy (PGTA) 2 Embryos
Pre implantation genetic testing for chromosomal aneuploidy is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score
Pre Implantation Genetic Testing for Aneuploidy (PGTA) 3 Embryos
Pre implantation genetic testing for chromosomal aneuploidy is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score
Pre Implantation Genetic Testing for Aneuploidy (PGTA) 4 Embryos
Pre implantation genetic testing for chromosomal aneuploidy is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score
Pre Implantation Genetic Testing for Aneuploidy (PGTA) 5 Embryos
Pre implantation genetic testing for chromosomal aneuploidy is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to infertility patients with increased maternal age, history of recurrent pregnancy loss, recurrent IVF failures. Embryo transfer recommendations are provided along with priority score
Pre Implantation Genetic Testing for Monogenic disorders (PGTM)
Pre implantation genetic testing for monogenic disorders or Single gene mendelian abnormalities is perfomed on embryo biopsy (1 sample) sent to the lab. It is offered to patients with family history of genetic disorders or carrier parents. Will need Genetic Counseing and pre-PGTM work up before offering test on biopsy.
QFPCR is a rapid genetic test used to detect common chromosomal abnormalities like aneuploidies in prenatal samples (fetal samples like amniotic fluid and CVS)
Second trimester maternal serum based quadruple marker test done at 16-22 wks of gestation. Down Syndrome, other aneuploidy and open neural tube defect (ONTD) risks are calculated by testing three biochemical markers AFP, beta-hCG, UE3 and Inhibin.
Second trimester maternal serum based quadruple marker test done at 16-22 wks of gestation. Down Syndrome, other aneuploidy and open neural tube defect (ONTD) risks are calculated by testing three biochemical markers AFP, beta-hCG, UE3, Inhibin, sFlt/PLGF ratio
Genetic counseling session for patients with bad obstetric history, recurrent pregnancy losses or fetal anolaies, history of children with genetic defects. The session can be both online or in-person. Offered by expert Genetic counsellors or Medical Geneticicsts. Session involves taking medical history, family history, pedigree analysis, dysmorphology study, providing recommendations for testing or follow up of genetic test results. A Genetic Counseling letter is provided at the end of the session describing the discussion and listing recommendations.
Metabolic disorder screening of selected conditions common in population such as Galactosemia, G6PD, Hypothyroidism and Phenylketonuria. Routinely offered to all new born babies to prevent mental retardation and other irreversible damage to the child’s development.
Metabolic disorder screening of selected conditions common in population such as Congenital Adrenal Hyperplasia, Galactosemia, G6PD, Hypothyroidism and Phenylketonuria. Routinely offered to all new born babies to prevent mental retardation and other irreversible damage to the child’s development.
Metabolic disorder screening of selected conditions common in population such as Biotinidase deficiency, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Galactosemia, G6PD, Hypothyroidism and Phenylketonuria. Routinely offered to all new born babies to prevent mental retardation and other irreversible damage to the child’s development.
SRY gene located on Y chromosome also called as Sex determining Region on Y chromosome contributes in male reproductive development. Deletion of SRY in XY and presence of SRY in XX cells can alter reproductive development. The test determines presence or absence of SRY gene
Genetic counseling session for patients and families affected with genetic conditions associated with organ systems such as Endocrine, Dermatological, Opthalmic, Neuromuscular, Pulmonary, Psychiatric, Gastroenterology, ENT, Hepatology, Urology, Nephrology, Orthopedic and Urogenital disorders. Offered by expert Genetic counsellors or Medical Geneticicsts. Session involves taking medical history, family history, pedigree analysis, dysmorphology study, providing recommendations for testing oror follow up of genetic test results. A Genetic Counseling letter is provided at the end of the session describing the discussion and listing recommendations.
Spermwith higher rate of aneuploidy negative impact on pregnancy. The test identifies sperm aneuploidy rates of chromosomes associated with recurrent pregnancy losses and aneuploidy risk for offspring.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. The test analyses SMN1, SMN2, and NAIP gene deletions and duplications to determine the clinical SMA type or carrier status.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. The test analyses SMN1, SMN2, and NAIP gene deletions and duplications to determine the clinical SMA type or carrier status.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. The test analyses SMN1, SMN2, and NAIP gene deletions and duplications to determine the clinical SMA type or carrier status.
Targeted known mutation testing or orthogonal confirmation is done to confirm the presence or absence of a specific known (previously reported variant)
Targeted known mutation testing or orthogonal confirmation is done to confirm the presence or absence of a specific known (previously reported variant)
Targeted known mutation testing or orthogonal confirmation is done to confirm the presence or absence of a specific known (previously reported variant)
Targeted known mutation testing or orthogonal confirmation is done to confirm the presence or absence of a specific known (previously reported variant)
The test analyses thrombophilia related gene polymorphisms to determine pregnancy loss risk due to thrombophilia. MTHFR, F5, F2 and PAI1 genes polymorphisms are analysed.