Screen
Includes over 300 widespread autosomal recessive and X-linked disorders, offering vital information for making informed decisions related to pregnancy and family planning. It features a comprehensive panel evaluation, including CNV analysis*
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Alport disease
- Bardet-Biedl syndromes
- Congenital adrenal hyperplasia
- Cystic fibrosis
- Fragile X syndrome
- Glycine encephalopathy
- Maple syrup urine disease
- Mucolipidosis, several types
- Mucopolysaccharidosis, several types
- Niemann-Pick disease
- Spinal muscular atrophy
- Organic acidemias
- Wilson disease
Fertility panel
Advised for couples who have been trying to conceive for over a year or have had multiple miscarriages. It's also suitable for individuals with menstrual irregularities, low sperm count or quality, or lack of secondary sexual characteristics development. Identifying the precise cause of infertility improves clinical management, allowing for better Counselling and a tailored reproductive care plan. Note that this NGS-only panel option doesn't cover sex chromosome aneuploidy, Y chromosome microdeletions, or FMR1-related Premature ovarian failure syndrome. For more extensive analysis, consider our Fertility X and Fertility Y panels.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Androgen insensitivity syndrome
- Hypogonadotropic hypogonadism
- Monogenic causes of female infertility
- Monogenic causes of male infertility
- Ovarian hyperstimulation syndrome
- Premature ovarian failure (not FMR1-related)
- Primary ciliary dyskinesia
- Spermatogenic failure
Fertility X panel
Recommended for individuals assigned female at birth who have been trying to conceive for over a year, have had multiple miscarriages, experience irregular or absent menstrual cycles, or lack secondary sexual characteristics. It covers key genes associated with female infertility, aiding in pinpointing the exact cause. This knowledge facilitates improved clinical management, enhanced counselling, and a personalised reproductive care plan. The panel also includes MLPA for aneuploidy.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Complete androgen insensitivity syndrome
- Hypogonadotropic hypogonadism
- Monogenic causes of female infertility
- Ovarian hyperstimulation syndrome
- Premature ovarian failure
- Turner syndrome
Fertility Y panel
Recommended for individuals assigned male at birth who have known fertility issues, are part of a couple with multiple miscarriages, have low sperm count, poor sperm morphology or motility, or lack secondary sexual characteristics. It focuses on key genes linked to male infertility, aiding in identifying the precise cause. This understanding leads to improved clinical management, better counselling, and a tailored reproductive care plan for couples. The panel also includes MLPA for aneuploidy and analysis of the AZF region.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- CFTR-associated infertility
- Hypogonadotropic hypogonadism
- Klinefelter syndrome
- Monogenic causes of male infertility
- Primary ciliary dyskinesia
- Spermatogenic failure
- Y chromosome microdeletions
