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CentoMetabolic®

CentoMetabolic® – A single test for all clinically relevant metabolic disorders.

The CentoMetabolic® panel is designed to test a large number of metabolic disorders over 200 metabolic diseases divided into 19 categories. It integrates genetic and biochemical tests, including enzyme assays and a selection of biomarkers. When genetic variants relevant to your patient are detected via CentoMetabolic®, we automatically supplement with the biomarker and/or enzyme test (if applicable) and include the results in your medical report. In addition, CentoMetabolic® includes copy number variant (CNV) analysis at no extra cost.

CentoMetabolic® allows for the confidence of a thorough evaluation for a possible metabolic diagnosis while at the same time providing an opportunity to prove the consequences of the identified genetic variant.

Who should you consider using CentoMetabolic® for?

Centometabolic should be considered for patients who meet one of the following criteria:

• Suspected metabolic diseases
• Infants who have lethargy or abdominal pain or vomiting or jaundice or metabolic acidosis
• Delay in development
• Admission to a neonatal intensive care unit (ICU), mainly due to epilepsy of unclear origin and disturbance of consciousness

Analized Genes:

ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DIABLO, DLX4, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, ITIH4, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPP1R17, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC2A3, SLC37A4, SLC3A1, SLC3A2, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS

Turnaround time: up to 30 days

Specimen: Saliva, Blood and BloodSpot.

SNP-array (High Density)

The SNP-array scan simultaneously investigates thousands of regions in the human genome to identify copy number variations (CNVs; Copy Number Variations). CNVs encompass deletions (loss) or duplications (gains) that can affect one or more genes and even large chromosomal segments.

The microarray is used to diagnose patients with suspected microdeletion and microduplication syndromes and is recommended to clarify various clinical conditions of unknown cause, including intellectual disability and congenital malformations. The exam offers strategically distributed high-density arrays to ensure broad coverage of clinically relevant regions of the human genome.

The high-density SNP-array offers the following advantages:

– High resolution in the identification of CNVs.

– Increased coverage in dose-sensitive genes.

– Detection of mosaic changes and regions of absence of heterozygosity (AOH).

Turnaround time: up to 30 days

Specimen: Saliva and Blood.

Whole Exome Sequencing

With more than 7,000 rare diseases identified and approximately 80 % linked to genetic causes, the diagnosis of rare disease patients can often be difficult – resulting in time-consuming, costly and emotional diagnostic odysseys. With Whole Exome Sequencing – WES, we have a genetic test at hand to diagnose in less time with the highest levels of accuracy.

The Full Exome provides highly uniform coverage of the entire exome and mitochondrial genome as well as nearly complete coverage of all known disease-causing regions in the genome, in a single test.

Includes analysis of CNVs.

Turnaround time: up to 45 days

Specimen: Saliva, Blood and BloodSpot.

Multi-Cancer Panel (84 genes)

Multi-Cancer Panel analyzes 84 genes associated with hereditary cancers across major organ systems, including:

breast and gynecologic (breast, ovarian, uterine)
gastrointestinal (colorectal, gastric, pancreatic)
endocrine (thyroid, paraganglioma/pheochromocytoma, parathyroid, pituitary)
genitourinary (renal/urinary tract, prostate)
skin (melanoma, basal cell carcinoma)
brain/nervous system
sarcoma
hematologic (myelodysplastic syndrome/leukemia)

The Invitae Multi-Cancer Panel is designed to maximize diagnostic yield for individuals with a personal or family history of mixed cancers affecting multiple organ systems.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Heterozygous Pathogenic/Likely pathogenic germline variants in RAD50 and NBN are not clearly associated with an increased risk for cancer; however, such variants may qualify certain patients for clinical trials targeting homologous recombination deficient tumors. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Turnaround time: until 20 days

Specimen: Saliva or Blood