Genetic testing

Skeletal dysplasias

Skeletal dysplasias
Test code: EVCS-NGS

Ellisa-van Creveld Syndrome (EVCS). Analysis of the entire coding sequences of the  EVC and EVC2 genes.

Turnaround time: up to 8 weeks

Price:  2100.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Skeletal dysplasias
Test code: TCS-NGS

Treacher-Collins Syndrome (TCS). Analysis of the entire coding  sequence of the DHODH, EFTUD2, POLR1B, POLR1C, POLR1D, SF3B4 and TCOF1 genes.

Turnaround time: up to 8 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Skeletal dysplasias
Test code: CED-NGS

Sensenbrenner syndrome/Cranioectodermal dysplasia (CED). Analysis of the entire coding  sequence of the IFT122, IFT140, IFT43, IFT52, WDR19, WDR35 genes.

Turnaround time: up to 8 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Skeletal dysplasias
Test code: AHG-NGS

Most common skeletal dysplasias with limb shortening in the prenatal period. Analysis of the entire coding  sequence of the  ALPL, COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, SOX9, TRIP11 genes.

Turnaround time: up to 6 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Ikona opcji  trophoblast
Skeletal dysplasias
Test code: FND-NGS

Frontal-nasal dysplasia (FND). NGS analysis of the entire coding sequence of the ALX1, ALX3 and ALX4 genes.

Turnaround time: up to 8 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Skeletal dysplasias
Test code: MICF-NGS

Microcephaly. Screening NGS analysis of genes responsible for clinical symptoms of the disease, based on Whole Exome Sequencing (WES).

Turnaround time: up to 14 weeks

Price:  3800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Skeletal dysplasias
Test code: NWS-NGS

Short stature/growth deficiency. Screening NGS analysis of genes responsible for clinical symptoms, based on Whole Exome Sequencing (WES).

Turnaround time: up to 14 weeks

Price:  3800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
Skeletal dysplasias
Test code: OCHD-NGS

Screening NGS analysis of the coding sequence of genes associated with clinical manifestations of skeletal dysplasias according to the 2019 Nosology Committee of the International Skeletal Dysplasia Society classification, based on Whole Exome Sequencing (WES).

Turnaround time: up to 14 weeks

Price:  3800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  oral cavity swab (kit dedicated to infants and babies)
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