Genomic Diagnostics

Chromosome Analysis by microarray (molecular karyotyping)
Molecular (submicroscopic) analysis of chromosome imbalances, used in the investigation of autism, developmental delay, or multiple congenital abnormalities

Chromosome Analysis by microarray (molecular karyotyping) – prenatal
Used in the investigation of genetic causes in high risk pregnancies with foetal anomalies

Chromosome Analysis by microscopy (karyotyping)
Microscopic analysis of chromosome structure and number, used for multiple indications

Chromosome Analysis by microscopy (karyotyping)
Used in the investigation of genetic causes of male and female infertility

Chronic Lymphocytic Leukemia
panel (multiple)

Chronic lymphocytic leukemia (CLL)
ATM 11q23 FISH

Chronic lymphocytic leukemia (CLL)
Trisomy 12 FISH

Chronic lymphocytic leukemia (CLL)
MYB 6q23 FISH

Chronic lymphocytic leukemia (CLL)
TP53 deletion 17p13 FISH

Chronic lymphocytic leukemia/Myeloma
13q deletion 13q14.3 FISH

Chronic myelomonocytic leukemia
PDGFRB BA 5q32 FISH

Coeliac disease
Genotyping for variants of HLA DQ2 and DQ8 in association with other tests

Colorectal Cancer
KRAS Molecular testing for specific variants

Colorectal Cancer
NRAS Molecular testing for specific variants

Cri du Chat FISH
Diagnosis of Cri du Chat Syndrome using FISH probes at EGR1

Cystic Fibrosis
Confirmation of suspected Cystic fibrosis, or for carrier testing

Cystic Fibrosis testing
Used in the investigation of genetic causes of male infertility, or for preconception carrier testing

Detection of common trisomies prenatally (13,18,21)
Diagnosis of trisomies 13, 18, and 21 by FISH or by QF-PCR. Down Syndrome, Edward Syndrome, Patau Syndrome

Di George/VCFS FISH
Diagnosis of Di/George VCFS Syndrome using FISH probes at 22q11.2

Dravet Syndrome, inherited seizures, inherited epilepsy
SCN1A Comprehensive Test

Dravet Syndrome, inherited seizures, inherited epilepsy
SCN1A Mutation Segregation Analysis

Ewings Sarcoma
EWSR1 22q12 FISH

Factor V Leiden mutation detection
Diagnosis of hereditary thrombophilia predisposition by detection of causative variant

Follicular Lymphoma
IGH/BCL2 t(14;18)(q32;21) FISH

Fragile X testing
Diagnosis and carrier testing for Fragile X related disorders, including Fragile X tremor and ataxia, premature ovarian insufficiency, and developmental delay

Fragile X testing
Used in the investigation of premature ovarian insufficiency

Gilbert Syndrome
Diagnosis of benign hyperbilirubinaemia by detection of specific variants at UGT1A1

Glioma
GLI 12q13 FISH

Hereditary haemochromatosis
Diagnosis of hereditary haemochromatosis predisposition by detection of causative variants

Inherited bowel/endometrial cancer – Lynch Syndrome
Multiple genes (MLH1, MSH2, MSH6, PMS2, MYH and EPCAM) comprehensive sequencing and copy number analysis of multiple genes

Inherited bowel/endometrial cancer – Lynch Syndrome
Single gene comprehensive test, sequencing and copy number analysis

Inherited bowel/endometrial cancer – Lynch Syndrome
Hereditary Colorectal Cancer Predictive Test (Single DNA variant)

Inherited breast/ovarian cancer
BRCA1 and 2 Comprehensive Test (both genes), sequencing and copy number analysis of BRCA1 and BRCA 2

Inherited breast/ovarian cancer
BRCA1 or BRCA2 comprehensive test (single gene), sequencing and deletion analysis of BRCA1 or BRCA 2

Inherited breast/ovarian cancer
Ashkenazi BRCA1/2 Founder Mutation Test (three variants), detection of ethnic-specific Hereditary Breast/Ovarian cancer variants

Inherited breast/ovarian cancer
BRCA1 or 2 Predictive Test (single DNA variant), detection of a familiy-specific DNA variant

Leukemia (ALL and CML)
BCR / ABL t(9;22)(q34;q11.2), FISH and molecular testing

Leukemias including treatment related
Trisomy/monosomy 7 FISH

Liposarcoma
CHOP 12q13 FISH

Liposarcoma
FUS 16p11 FISH

Lymphoma
panel (multiple) FISH

Mantle cell Lymphoma/CLL
IGH/CCND1-XT t(11;14)(q13;q32) FISH

Melanoma
BRAF Molecular testing for specific variants

Miller-Dieker FISH
Diagnosis of Miller-Dieker Syndrome using FISH probes at LIS1

Multiple Myeloma
panel (multiple) FISH

Multiple myeloma (MM)
1pq (CKS1B/CDKN2) amplification/deletion 1q21/1p32.3 FISH

Multiple myeloma (MM)
IGH/FGFR3 t(4;14)(p16.3;q32) FISH

Multiple myeloma (MM)
IGH/MAF translocation, t(14;16) FISH

Multiple myeloma (MM)
IGH/MAFB translocation, t(14;20) FISH

Myelodysplastic syndrome
panel (multiple) FISH

Myelodysplastic syndromes
ETV6 12p13 FISH

Myeloid and lymphatic leukemias
1pq 1p36/1q25 FISH

Myeloid and lymphatic leukemias
Trisomy 9 FISH

Myeloid and lymphoid neoplasms
FIP1L1/PDGFRA: CHIC2- deletion 4q12 FISH

Myeloid leukemias
EVI1 3q26.2 FISH

Myeloid neoplasms
5q deletion (5q- syndrome) 5q31.2 FISH

Myeloid neoplasms
7q deletion 7q22/7q31 FISH

Myeloproliferative disorders
FGFR1 8p12 FISH

Myeloproliferative disorders/Myeloid neoplasms
20q deletion 20q12 FISH

Myeloproliferative disorders/Myeloid neoplasms
JAK2 Molecular testing for specific variants

Myeloproliferative disorders/Myeloid neoplasms
CALR Molecular testing for specific variants

Myeloproliferative disorders/Myeloid neoplasms
MPL Molecular testing for specific variants

Non Hodgkin lymphomas
BCL6 3q26 FISH

Non hodgkin Lymphomas
IGH/MALT1 t(14;18)(q32;q21) FISH

Non hodgkin Lymphomas
PAX 5 9p12 FISH

Non small cell lung cancer
ALK 2p23 FISH

NSCLC
EGFR Molecular testing for specific variants

Prader Willi FISH
Diagnosis of Prader Willi Syndrome using FISH probes at 15q11.2-q13

Prothrombin gene mutation detection
Diagnosis of hereditary thrombophilia predisposition by detection of causative variant

Sendaway tests via the GENDIA network (over 3000 genetic tests)

Sex determination
Diagnosis of sex chromosome imbalances for chromosomes X and Y by FISH or QF-PCR

Smith-Magenis FISH
Diagnosis of Smith-Magenis Syndrome using FISH probes at RAR1

Sotos FISH
Diagnosis of Sotos Syndrome using FISH probes at NSD1

Synovial sarcoma
SYT 18q11.2 FISH

T cell leukemias
TCL1 breakapart 14q32.13 FISH

TPMT genotyping
Testing for specific variants in the TPMT variant to predict dosage of azathioprine and 6-mercaptopurine

Tumour molecular profiling (Ideally suited for molecular profiling of lung, melanoma, colon, gastric, and ovarian malignancies)
AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS, KIT, KRAS, MAP2K1, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53, selected exons. Molecular testing for specific variants. All exons of selected genes (e.g. KRAS and NRAS), some genes only include specified actionable variants.

Various Neoplasms
MDM2 amplification 12q14.3 FISH

Williams-Beuren FISH
Diagnosis of Williams-Beuren Syndrome using FISH probes at ELN

Wolf-Hirschorn FISH
Diagnosis of Wolf-Hirschorn Syndrome using FISH probes for genes at 4p

X inactivation FISH
Diagnosis of X Inactivation Syndrome using FISH probes at XIST

Xp Yp deletions FISH
Diagnosis of Xp Yp Deletions using FISH probes at SHOX

Y Chromosome Microdeletion Analysis
Used in the investigation of male infertility (AZF, DAZ)

Yp rearrangements FISH
Diagnosis of Yp rearrangements using SRY probe

For Physicians

List of Medical Products