By Medical Application

Services By Medical Application

CML

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
t(9;22) (q34;q11.2) BCR – ABL1 dual fusion	BCR – ABL1 P210 Quantitative PCR	Oncomine Myeloid 85 genes DNA + RNA
Chromosome 8 trisomy	BCR – ABL1 Genotyping (p190, p210, p230 )
P53 17p13 CNV	ABL Sequencing
P53 17p13 CNV	TP53 Sequencing

MPD

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
t(9;22) (q34;q11.2) BCR – ABL1 dual fusion	BCR – ABL1 P210 Quantitative PCR	Oncomine Myeloid 85 genes DNA + RNA
	JAK2 V617F
	JAK2 Sequencing
JAK2 9p24 Break Apart	MPL W 515L\K
P53 17p13 CNV	MPL Sequencing
P53 17p13 CNV	CALR Sequencing
FIP1L1 / CHIC2 / PDGFRA Break Apart	TP53 Sequencing
PDGFRB Break Apart	TP53 Sequencing

MDS

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
5q deletion	IDH1 / IDH2	Oncomine Myeloid 85 genes DNA + RNA
Chromosome 7 deletion / Monosomy	IDH1 / IDH2
Chromosome 8 trisomy	TP53 Sequencing
P53 17p13 CNV	TP53 Sequencing

AML

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
t(9;22) (q34;q11.2) BCR – ABL1 dual fusion	BCR – ABL1 P210 Quantitative PCR	Oncomine Myeloid 85 genes DNA + RNA
t(9;22) (q34;q11.2) BCR – ABL1 dual fusion	BCR – ABL1 Genotyping (p190, p210, p230)
t (15;17) (q24; q21) PML – RARA dual fusion	PML – RARA Quantitative PCR
t (8;21) (q21; q22) RUNX1 – RUNX1T1 (AML – ETO) dual fusion	RUNX1 – RUNX1T1 AML – ETO t (8;21)
CBFB 16q22 Break Apart	FLT3 ITD & TKD
JAK2 9p24 Break Apart	NPM1 (A, B & D)
NTRUK3 15q25 Break Apart	FLT3 Sequencing
Chromosome 8 trisomy	TP53 Sequencing
Chromosome 5q- Deletion	JAK2 V617F
Chromosome 7 Deletion	JAK2 Sequencing
t (3;21) (q26; q22) MECOM – RUNX1 dual fusion	JAK2 Sequencing
P53 17p13 CNV	IDH1 / IDH2

ALL / Lymphoma

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
t (9;22) (q34; q11.2) BCR – ABL1 dual fusion	BCR – ABL1 Genotyping (p190, p210, p230)
t (12;21) ETV6 – RUNX1 (TEL – AML1) dual fusion	BCR – ABL1 p190 Quantification
IGH 14q32 Break Apart	TPMT Genotyping
KMT2A (MLL) 11q23 Break Apart	TP53 Sequencing
t (4;11) KMT2A – AFF1 dual fusion
ALK 2p23 Break Apart
P53 17p13 CNV
t (11;14) CCND1 – IGH (BCL1-IGH) dual fusion
BCL1 (CCND1) 11q13.3
BCL2 – IGH dual fusion
BCL2 18q21 Break Apart
BCL6 3q27 Break Apart
t (8;14) MYC – IGH dual fusion
c-MYC 8q24 Break Apart
c-MYC / BCL2 / BCL6 (double /Triple Hit Lymphoma)

CLL / Multiple Myeloma

Cytogenetics: Karyotyping (Oncology)

FISH	Molecular genetics	NGS
Chromosome 12 / 13q34 / 13q14.3	IGHV
TP53 / ATM	TP53 Sequencing
t (4;14) IGH – FGFR3 dual fusion
t (14;16) IGH – MAF dual fusion
t (14;20) IGH – MAFB dual fusion

Solid Tumor FFPE

Cytogenetics: Karyotyping (Oncology) - Fresh Surgical tumor biopsy

FISH	Molecular genetics	NGS
HER2 ERBB2 PathVysion FDA approved	EGFR	NGS Oncomine Comprehensive 161 genes DNA + RNA
ALK	KRAS	NGS Oncomine Comprehensive 161 genes DNA + RNA
ROS1	NRAS	NGS Oncomine BRCA Assay Somatic analysis
EGFR HER1	BRAF	NGS Oncomine BRCA Assay Germline analysis
FGFR1	C KIT
FGFR2	PIK3CA
FGFR3	MGMT
1p / 19q	IDH1 / IDH2
MYC	BRCA1 CNV
BCL1 (CCND1)	BRCA2 / CHEK2 CNV
BCL2	TP53 Sequencing
BCL6	MET exon 14 skipping mutations (RNA)
IGH	RET (RNA)
EWSR1	MET exon 14 skipping mutations (RNA)
FUS	ALK (RNA)
FOXO	ROS1 (RNA)
NMYC	MSI
NTRK1
NTRK2
NTRK3
RET
MET
NRG1
PDL1 / PDL2
BRCA1 / BRCA2
SS18
c-MYC / BCL2 / BCL6 (double / Triple Hit Lymphoma)

Solid Tumor Urine

FISH	Molecular genetics	NGS
UroVysion Bladder Cancer	PCA3 Prostate Cancer

Solid Tumor Liquid Biopsy

FISH	Molecular genetics	NGS
	CT EGFR (Liquid Biopsy)	Solid Tumor Oncomine Precision (Liquid Biopsy)
	CT EGFR T790M (Liquid Biopsy)
	CT KRAS / CT NRAS (Liquid Biopsy)
	CT BRAF (Liquid Biopsy)

Pharmacogenetics

FISH	Molecular genetics	NGS
	DPYD 5FU
	TPMT

Anemia

Cytogenetics: Chromosomal breakage (Fanconi Anemia)

FISH	Molecular genetics	NGS
	Beta Globin (B thalassemia, Sickle cell anemia)
	Alpha Globin (A thalassemia)
	Beta Globin CNV
	Alpha Globin CNV

Mental Retardation

Karyotyping (Constitutional)

FISH	Molecular genetics	NGS
Chromosome 21 trisomy	FRAGILE X	NGS Whole Exome Sequencing WES
DiGeorge N25 DGCR2	MICROCEPHALY MLPA Panel
DiGeorge II
DiGeorge TBX1 / N85A3.3
DiGeorge VCFS N25 / N85A3
Angelman (UBE3A/D15S10)
Prader-Willi /Angelman (SNRPN)
Williams Beuren
Telomere deletion (Chromosomes 1 to 22 + X & Y)

Reproduction disorder

Karyotyping (Constitutional)

FISH	Molecular genetics	NGS
	Chromosome Y Microdeletion (21 STS)	NGS Whole Exome Sequencing WES
	NIPT RH
	NIPT SRY

Neuro / Muscular disorders

Karyotyping (Constitutional)

FISH	Molecular genetics	NGS
	Duchenne muscular dystrophy DMD	NGS Whole Exome Sequencing WES
	Spinal Muscular Atrophy SMA (SMNA1/2 NAIP) Werdnig Hoffmann Disease
	Neurodegeneration with brain iron accumulation (NBIA) PANK2/PLA2G6 MLPA

Cardiovascular Disease

FISH	Molecular genetics	NGS
	Factor V Leiden / MTHFR / PTH	NGS Whole Exome Sequencing WES
	Cardiovascular Disease (Extended gene Panel)
	ApoE Genotyping

Common Genetic disorders

Karyotyping (Constitutional)

FISH	Molecular genetics	NGS
XY / XX	Cystic Fibrosis	NGS Whole Exome Sequencing WES
	FMF
	Gaucher Disease
	Haemachromatosis
	HLA – B27
	Adenomatous polyposis coli APC (MUTYH)
	SRY

Microbiology

FISH	Molecular genetics	NGS
	SARS COV2 Q- PCR	NGS SARS COV2 Genome Typing (Lineage detection)
	HBV Q - PCR
	HCV Q - PCR
	BK Q - PCR
	CMV Q - PCR
	TB Q - PCR
	Toxoplasmosis

Prenatal

Cytogenetics	FISH	Molecular genetics	NGS
Karyotyping (Amniotic Fluid)	DiGeorge N25 DGCR2 Prenatal	Beta Globin (B thalassemia, Sickle cell anemia) Prenatal	NGS NIPT
Karyotyping (Fetal Blood)	DiGeorge II Prenatal	Alpha Globin (A thalassemia) Prenatal
Karyotyping (CVS)	DiGeorge TBX1 / N85A3.3 Prenatal	Cystic Fibrosis Prenatal
	DiGeorge VCFS N25 / N85A3 Prenatal	FMF Prenatal
	DiGeorge VCSF TUPLE1 / N85A3 Prenatal	Gaucher Disease Prenatal
	Angelman (UBE3A/D15S10) Prenatal	Duchenne muscular dystrophy DMD Prenatal
	Prader-Willi /Angelman (SNRPN) Prenatal	Spinal Muscular Atrophy SMA (SMNA1/2 NAIP) Werdnig Hoffmann Disease Prenatal
	Williams Buren Prenatal	Beta Globin CNV Prenatal
	Aneuploidy (Chromosomes 1 to 22 + X & Y) Prenatal	Alpha Globin CNV Prenatal
	Telomere (Chromosomes 1 to 22 + X & Y) Prenatal	FRAGILE X Prenatal
	X/Y/21 Prenatal	MICROCEPHALY Prenatal
	Sex Chromosomes (X /Y) Prenatal	Neurodegeneration with brain iron accumulation (NBIA). PANK2/PLA2G6 Prenatal
	Translocation Prenatal	Adenomatous polyposis coli APC (MUTYH) Prenatal
		Amnio Fetal RH Prenatal
NIPT Fetal RH Prenatal

PGD / PGS - PGTM / PGTS

FISH	Molecular genetics	NGS
DiGeorge N25 DGCR2 PGD	Beta Globin (B thalassemia, Sickle cell anemia) PGD	NGS PGTA
DiGeorge II PGD	Alpha Globin (A thalassemia) PGD
DiGeorge TBX1 / N85A3.3 PGD	Cystic Fibrosis PGD
DiGeorge VCFS N25 / N85A3 PGD	FMF PGD
DiGeorge VCSF TUPLE1 / N85A3 PGD	Gaucher Disease PGD
Angelman (UBE3A/D15S10) PGD	Duchenne muscular dystrophy DMD PGD
Prader-Willi /Angelman (SNRPN) PGD	Spinal Muscular Atrophy SMA (SMNA1/2 NAIP) Werdnig Hoffmann Disease PGD
Williams Buren PGD	FRAGILE X PGD
X/Y/21 PGS	Adenomatous polyposis coli APC (MUTYH) PGD
Aneuploidy (Chromosomes 1 to 22 + X & Y) PGS	RH PGD
Sex Chromosomes (X /Y) PGS	SRY PGD
Translocation PGD	SRY PGD