Includes the most relevant genes for arrhythmias, congenital heart disease, and cardiomyopathies. Syndromes included: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorragic telangiectasia.

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NGS (Next-Generation Sequencing)/MLPA/Sanger Sequencing/PCR

A prior consultation at BION is necessary to evaluate the feasibility and plan for PGT-M.

• A pre-PGT-M analysis is mandatory. Samples such as blood sample from the couple and potentially other family members will be required as part of the genetic consultation process.

• The PGT-M procedure allows for a blastocyst biopsy on days 5, 6, or 7 of embryo development. A sample of 4-8 trophectoderm cells is needed for testing. In certain cases, a biopsy on day 3 may be considered upon request.

PGT-A (formerly known as PGS) is a genetic test performed on embryos to detect numerical chromosomal abnormalities (aneuploidy). Our PGT-A utilizes Next-Generation Sequencing (NGS) to analyze all 24 chromosomes, ensuring chromosomal abnormalities are identified before embryo transfer. This enables informed decisions and increases the chances of a successful pregnancy.

5 business days

NGS (Next-Generation Sequencing), low pass whole genome

single cell biopsy on day 3 of development and trophectoderm biopsy.

Description: Chromosome sequencing utilizes NGS-based low-coverage whole genome sequencing (WGS) to identify chromosomal abnormalities either before or during pregnancy. The test can be conducted on various sample types.

Indications:

• Individuals or couples seeking to confirm high-risk results from screening tests like Maternal Serum Screening (MSS) or Non-invasive Prenatal Testing (NIPT)
• Those who have experienced recurrent miscarriages or have a child affected by a genetic disorder
• Individuals or couples with abnormal ultrasound findings but negative CGH or SNP test results
• Anyone suspected of being part of a population at higher risk for chromosomal abnormalities, or those wishing to determine if a chromosomal issue contributed to a miscarriage.

NGS

Abortion Tissue, Peripheral Blood, DNA, Amniotic Fluid and CVS.

High resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads. The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive analysis of the karyotype. This type of study is required for the detection of subtle chromosome rearrangements, and it is considered an important component in the diagnosis of microdeletion syndromes such as Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and Miller-Dieker syndrome.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes X/Y.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 18.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 21.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

NIFTY ® (Non-Invasive Fetal TrisomY test)

Introduction

In the past decade, advancements in genetics and significant progress in genetic technologies have enhanced our ability to comprehend diseases, make diagnoses, and deliver effective treatments.

The introduction of non-invasive prenatal testing (NIPT), particularly DNA-based methods, has revolutionized prenatal screening for fetal aneuploidy. The NIFTY® test (Non-Invasive Fetal TrisomY test), which became the first NIPT to undergo clinical testing in 2010, has been validated through research involving nearly 147,000 pregnancies. By December 31, 2021, over 10 million NIFTY tests had been conducted globally.

NIFTY® screens for several common trisomies at birth, including trisomy 21 (Down Syndrome), trisomy 18 (Edwards Syndrome), and trisomy 13 (Patau Syndrome), and also offers testing for sex chromosomal aneuploidies, chromosomal deletions/duplications, and gender determination.

The test is suitable for:

* Women who would like to avoid miscarriage risk following invasive prenatal testing.

* History of a prior pregnancy with a chromosomal abnormality.

* Down syndrome screening indicating an increased risk of abnormalities.

* Pregnancy following IVF or history of recurrent miscarriage.

* A pregnant woman who wishes to have a highly accurate result on whether her baby has Down syndrome.

* Any age of pregnant women from 10 weeks gestation 

The NIFTY® Test Pro

NIFTY® Test Pro builds on the standard NIFTY® Test and provides expanded screening options covering all chromosomal numeric aneuploidies and 92 kinds of microdeletion/duplication syndromes.

under 7 business days

NGS

Sample collection kit provided by BION

Genetic Carrier Screening is typically performed before conception to provide prospective parents with valuable information regarding their reproductive options and the potential risks of passing genetic disorders to their children. This test helps individuals make informed decisions about family planning and medical management during pregnancy.

Guided by recommendations from the American College of Medical Genetics and Genomics (ACMG), carrier screening frequently includes whole exome sequencing or other molecular tests to identify individuals or couples at risk for having a child with an autosomal recessive or X-linked genetic disorder. The screening may also focus on specific genetic conditions, including Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Fragile X Syndrome, Sickle Cell Anemia, Alpha and Beta Thalassemia, based on specialist recommendations.

Key Points:

1. Pre-Test Counselling: Essential for ensuring that patients fully understand the potential outcomes and implications of carrier screening.
2. Increased Risk in Consanguinity: Marriages between relatives increase the risk of autosomal recessive disorders. Couples from certain populations, even if not closely related, may also face a higher risk.
3. Negative Test Results: A negative result reduces, but does not completely eliminate, the possibility of having an affected child.

Technology Limitations: Current testing technologies may not detect all genetic variants associated with certain conditions.

4-6 weeks

NGS (Next-Generation Sequencing) / MLPA (Multiplex Ligation-dependent Probe Amplification)

EDTA Blood, DNA