Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
330004	Chromosome analysis - AS		Cell Culture	Amniotic fluid	15-20ml	21
330016	Chromosome analysis - blood		Cell Culture	Blood (Heparin)	2-3ml	20
330011	Chromosome analysis - cord		Cell Culture	Cord blood (heparin)	2-3ml	7
330015	Chromosome analysis - CVS		Cell Culture	Chorionic villus	30-50μg	21
330010	Chromosome analysis - skin		Cell Culture	Skin tissue	30-50μg	21
3300563	Citrulinemia	ASS1 - Exon 10 ASS1 - Exon 11, ASS1 - Exon 12, ASS1 - Exon 13, ASS1 - Exon 14, ASS1 - Exon 15, ASS1 - Exon 16, ASS1 - Exon 3, ASS1 - Exon 4, ASS1 - Exon 5, ASS1 - Exon 6, ASS1 - Exon 7, ASS1 - Exon 8, ASS1 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332034	Cold-Induced Sweating Syndrome Type 1	CRLF1 - Exon 1, CRLF1 - Exon 2, CRLF1 - Exon 3, CRLF1 - Exon 4, CRLF1 - Exon 5, CRLF1 - Exon 6, CRLF1 - Exon 7, CRLF1 - Exon 8, CRLF1 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300195	COMT gene V158M	COMT	Fragment analysis	EDTA blood	2-3ml	15
53331120	Congenetal Adrenal Hyperplasia, 11-beta Hydroxylase deficiency	CYP11B1 - Exon 1, CYP11B1 - Exon 2, CYP11B1 - Exon 3, CYP11B1 - Exon 4, CYP11B1 - Exon 5, CYP11B1 - Exon 6, CYP11B1 - Exon 7, CYP11B1 - Exon 8, CYP11B1 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300646	Congenetal Adrenal Hyperplasia, 21 Hydroxylase deficiency - MLPA Analysis	CYP21A2 - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	21
3331140	Congenetal Adrenal Hyperplasia, 21 Hydroxylase deficiency - Sequence analysis	CYP21A2 - Exon 1, CYP21A2 - Exon 10, CYP21A2 - Exon 2, CYP21A2 - Exon 3, CYP21A2 - Exon 4, CYP21A2 - Exon 5, CYP21A2 - Exon 6, CYP21A2 - Exon 7, CYP21A2 - Exon 8, CYP21A2 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331250	Congenetal Afibrinogenemia	FGB - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300585	Congenetal disorder of glycosylation, type 1a	PMM2 - Exon 1, PMM2 - Exon 2, PMM2 - Exon 3, PMM2 - Exon 4, PMM2 - Exon 5, PMM2 - Exon 6, PMM2 - Exon 7, PMM2 - Exon 8	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300581	Congenetal disorder of glycosylation, type Ib	MPI - Exon 1, MPI - Exon 2, MPI - Exon 3, MPI - Exon 4, MPI - Exon 5, MPI - Exon 6, MPI - Exon 7, MPI - Exon 8	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330970	Congenetal Genaralized Lipodystrophy Type 2	BSCL2 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331000	Congenetal Genaralized Lipodystrophy Type 4	CAVIN1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330840	Congenetal Generalized Lipodystrophy Type 1	AGPAT2 - Exon 1, AGPAT2 - Exon 2, AGPAT2 - Exon 3, AGPAT2 - Exon 4, AGPAT2 - Exon 5, AGPAT2 - Exon 6, AGPAT2 - Exon 7	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300413	Congenetal Myotonia	CLCN1 - Exon 1, CLCN1 - Exon 10, CLCN1 - Exon 11, CLCN1 - Exon 12, CLCN1 - Exon 13, CLCN1 - Exon 14, CLCN1 - Exon 15, CLCN1 - Exon 16, CLCN1 - Exon 17, CLCN1 - Exon 18, CLCN1 - Exon 19, CLCN1 - Exon 2, CLCN1 - Exon 20, CLCN1 - Exon 21, CLCN1 - Exon 22, CLCN1 - Exon 23, CLCN1 - Exon 3, CLCN1 - Exon 4, CLCN1 - Exon 5, CLCN1 - Exon 6, CLCN1 - Exon 7, CLCN1 - Exon 8, CLCN1 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332040	Congenetal Neutropenia	ELANE - Exon 1, ELANE - Exon 2, ELANE - Exon 3, ELANE - Exon 4, ELANE - Exon 5	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
333134	Congenetal Neutropenia	HAX1 - Exon 1, HAX1 - Exon 2, HAX1 - Exon 3, HAX1 - Exon 4, HAX1 - Exon 5, HAX1 - Exon 6, HAX1 - Exon 7	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40

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