Genomics

Our genomics testing services provide insights into genetic variations that influence health and treatment outcomes. Firmalab Bio-Diagnostics offers a comprehensive range of genetic testing options designed to provide valuable insights into an individual’s genetic makeup. Our advanced genetic tests support personalized medicine, early detection of genetic conditions, and informed decision-making for patients and healthcare providers.

Genomics Services

Pharmacogenetics (PGx) Panels

Personalized medication management for cardiovascular, oncology, pain management, and psychotropic needs.

Genetic Sequencing

Sanger sequencing for detailed genetic analysis.

Clinical Utility

  • Identification of carrier status for inherited conditions
  • Informed reproductive planning and risk assessment
  • Early intervention and management for identified conditions

sequencing services

Genetic Sequencing

Genetic sequencing provides detailed analysis of specific genes or regions of the genome to diagnose genetic disorders, guide treatment decisions, and support research.

Clinical Utility

  • Accurate diagnosis of genetic disorders
  • Identification of genetic mutations and variants
  • Support for clinical research and personalized treatment plans

Targeted Gene Sequencing

Focuses on specific genes of interest related to particular conditions.

Group Sequencing

Analyzes groups of genes associated with specific diseases or syndromes.

Sanger Sequencing

High-accuracy sequencing method for targeted genetic analysis.

Specific Exon Sequencing

Specific Exon sequencing is used to confirm a previously recorded mutation, or test only for specific founder/com- mon mutations in a patient of high risk (e.g. with positive family history and known mutation, or member of highrisk population).

Single Exon

Sequencing of any single exon in the gene of interest.

Two Exons

Sequencing of any two exons in the gene of interest.

Three Exons

Sequencing of any three exons in the gene of interest.

Genetic Test Menu

Tests are organized in four tables (Carrier, Specific Exon, and Diagnostic Panels).

Carrier screening tests are used for asymptomatic individuals with or without family history of the disease. On a case-by-case basis, reserved for patients in significant financial hardship, we can provide discounted or possibly probono testing services. Probono services are limited to fewer than 10% of specimens received per month.

Test name Test description
CYP450 Panel
Sequence of CYP2C9, CYP2C19, and CYP2D6 genes
ME Panel
Middle-East Carrier Screening Panel (Wolman, HIBM, Usher, Dubin Johnson, G6PD deficiency, founder and common mutations)
ME Panel w/ MTH- FR
Middle-East Carrier Screening Panel (Wolman, HIBM, Usher, Dubin Johnson, G6PD deficiency, MTHFR, founder and common mutations)
AIRE p.Y85C
Polyglandular Syndrome, Autoimmune (APS I)
BCHE p.D70G
Pseudocholinesterase Deficiency
CYP11B2 p.R181W, p.V386A
Congenital hypoaldosteronism, Corticosterone methyl oxidase II (CMO II) deficiency
mtDNA analysis
Sequence of hypervariable regions I, II, and III. These are linked to ances- try.
GNE p.M712T
Hereditary Inclusion Body Myopathy type 2 (HIBM, IBM2), Distal Myopathy with Rimmed Vacuoles (DMRV), GNE Myopathy, Middle-East founder mutation
GNE p.V572L
Hereditary Inclusion Body Myopathy type 2 (HIBM, IBM2), Distal Myopathy with Rimmed Vacuoles (DMRV), GNE Myopathy, Asian founder mutation
G6PD p.S188F
G6PD deficiency (G6PD) Middle-East common mutation
LAL p.G87V
Wolman Disease (LAL/LIPA), Iranian-Jewish founder mutation, LAL p.G87V (G66V based on Anderson, et.al. 1991).
MRP2 p.I1173F
Dubin Johnson Syndrome, DJS (MRP2/CMOAT/ABCC2), Middle-East founder mutation
MTHFR p.A222V
MTHFR thermolabile variant (MTHFR), Worldwide, MTHFR p.A222V (677C>T)
Oxidation Panel
Oxidation Panel (SOD1, CBS, COMT, MAOA)
USH2A p.T80fsX28
Usher Syndrome (USH2A), Middle-East founder mutation

Specific Exon sequencing is used to confirm a previously recorded mutation, or test only for specific founder/common mutations in a patient of high risk (e.g. with positive family history and known mutation, or member of high risk population).

Test name Test description
Single Exon
Sequencing of any single exon in the gene of interest
Two Exons
Sequencing of any two exons in the gene of interest
Three Exons
Sequencing of any three exons in the gene of interest

Diagnostic testing panels and Single Gene sequencing are requested to confirm diagnosis of symptomatic patients. To discover common mutations rapidly and cost effectively, tests are performed in sequential, tiered, or stepwise bases when possible (e.g. the genes or exons known to be responsible for common mutations are sequenced first). Testing is stopped once the likely responsible mutation is discovered.

Test name Test description
ALS Panel
Amyotrophic Laterial Sclerosis (ALS) Sequencing Panel (SOD1, FUS/TLS, TARDBP, ANG, VAPB)
ARVD/C Panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia, Sequential Panel (DSG2, DSP, PKP2, DSC2, RYR2, TMEM43, TGFB3, JUP)
BBS Panel
Bardet-Biedl Syndrome Sequential Panel (BBS1, BBS10, BBS2, MKKS/ BBS6, BBS12, BBS4, BBS7, TTC8/BBS8, BBS5, ARL6/BBS3, BBS9, TRIM32/BBS11)
Bernard-Soulier Panel
Bernard-Soulier Sequential Panel (GP1BA, GP1BB, GP9)
Bethlem Panel
Bethlem Myopathy (COL6A1, COL6A2, COL6A3)
CFC Panel
Cardio-Facio-Cutaneous (CFC) Syndrome Sequential Panel (BRAF, MEK1, MEK2, KRAS)
CCM Panel
Cerebral Cavernous Malformations (CCM) Sequential Panel (KRIT1, CCM2/MGC4607, CCM3/PDCD10)
CMT1 Panel
Charcot-Marie-Tooth Type 1 (CMT1) Sequential Panel (PMP22, MPZ, LITAF, EGR2, NEFL)
CMT2 Panel
Charcot-Marie-Tooth Type 2 (CMT2) Sequential Panel (MFN2, GDAP1, NEFL, GARS, LMNA, YARS, KIF1B, RAB7A, MED25, TRPV4, HSPB1, MPZ, HSPB8, AARS, DNM2)
CMT4 Panel
Charcot-Marie-Tooth Type 4 (CMT4), recessive, Sequential Panel (GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4, FIG4)
CMTx Panel
Charcot-Marie-Tooth Other, Sequential Panel (GARS, HSPB1, HSPB8, LMNA, DNM2, YARS, MPZ)
CDG Panel 1
Congenital Disorders of Glycosylation (CDG), Sequential Panel (PMM2, ALG6, MPI, SRD5A3)
CDG Panel 2
Congenital Disorders of Glycosylation (CDG), Sequential Panel (RFT1, ALG3, ALG12, ALG8, ALG1/HMT-1, MAGT1, MGAT2, ALG2, ALG9)
CDG Panel 3
Congenital Disorders of Glycosylation (CDG), Sequential Panel (DOLK/ DK1, DPM3, ALG11, MOGS/GCS1, SLC35C1, B4GALT1, SLC35A1, COG1, COG4, COG5, COG6, COG7, COG8)
CMS Panel
Congenital Myasthenic Syndrome (CMS) Panel (CHAT, CHRNE, COLQ, RAPSN, CHRNA1, CHRNB1, MUSK, CHRND, DOK7)
CGL Panel
Congenital Generalized Lipodystrophy Sequential Panel (AGPAT2, BSCL20)
CYP450 Panel
Pharmacogenetics Panel (CYP2C9, CYP2C19, CYP2D6)
DCM Panel
Dilated Cardiomyopathy Sequential Panel (LMNA, MYH7, TNNT2, SC- N5A, MYH7, ACTC1, TTN,
Distal Arth. Panel
Distal Arthrogryposis Syndrome Sequential Panel (MYH3, TPM2, TNNI2, TNNT3)
Distal Myopathy Panel
Distal Myopathy Sequential Panel (DYSF, GNE, TTN, CAV3. MYH7, MATR3, MYOT, NEB, LDB3, ANO5, KLHL9, DNM2)
DG Panel
Dystroglycanopathy Sequential Panel (DAG1, FKRP, FKTN, POMT1, POMT2, POMGNT1, LARGE)
FHL Panel
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel (PRF1, UN- C13D//MUNC13- 4, STX11, STXBP2, RAB27A)
Fanconi Panel
Fanconi Anemia Sequential Panel (FANCA, FANCC, FANCG, FANCE, FANCF, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, RAD51C, SLX4)
HPE Panel
Holoprosencephaly (HPE), Autosomal Dominant, Nonsyndromic, Sequen- tial Testing (SHH, ZIC2, SIX3, TGIF1, PTCH1, GLI)
HCM Panel
Hypertrophic Cardiomyopathy (HCM) Sequential Panel (MYH7, MYB- PC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1, CSRP3, TTN, ACTN2, MYH6, TCAP, TNNC1)
LGMD Panel
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel (CAPN3, DYSF, SGCG, SGCA, SGCB, SGCE, TCAP, TRIM32, FKRP, TTN, TMEM16E/ANO5 )
Joubert Panel
Joubert Syndrome Sequential Panel (AHI1, CEP290, TMEM67, RP- GRIP1L, ARL13B, CC2D2A, CXORF5, TMEM67)
MKS Panel
Meckel-Gruber Syndrome (MKS) Sequencing Panel (MKS1, TMEM67/ MKS3, CEP290, RPGRIP1L)
ARSA, PSAP
Metachromatic Leukodystrophy Sequential Panel (ARSA, PSAP)
MMA Panel
Methylmalonic Acidemia IMMA) Sequential Panel (MMAA, MMAB, MUT, MMACHC, MCEE)
MED Panel
Multiple Epiphyseal Dysplasia (MED) Sequential Panel (COMP, MATN3, SLC26A2, COL9A1, COL9A2, COL9A3)
Myofibrillar Panel
Myofibrillar Myopathy (MFM) Sequential Panel (BAG3, CRYAB, DES, FLNC, LDB3, MYOT)
Nemaline Panel
Nemaline Myopathy Sequential Panel (ACTA1, NEB, NEBx55 Del, TPM2, TPM3, TNNT1, CFL2)
Noonan Panel
Noonan Syndrome Sequential Panel (PTPN11, SOS1, RAF1, KRAS)
Oxidation Panel
Oxidation Panel (SOD1, CBS, COMT, MAOA)
PCD Panel
Primary Ciliary Dyskinesia (PCD) Sequential Panel (DNAH5/PCD3, DNAI1/PCD1, TXNDC3/PCD6, DNAI2/PCD9, C14orf104, DNAH11, RSPH4A, RSPH9)
SCN Panel
Severe Congenital Neutropenia (SCN) Sequential Panel (ELANE, HAX1, G6PC3, GFI1, WAS)
SCDO Panel
Spondylocostal Dysostosis (SCDO) Sequential Panel (DLL3, MESP2, LFNG, HES7)
Stuttering Panel
Stuttering Sequential Panel (GNPTAB, GNPTG, NAGPA)
Usher 1 Panel
Usher Syndrome type 1 Sequential Sequencing (MYO7A, CDH23, PCDH15, USH1C)
Usher 2 Panel
Usher Syndrome type 2 Sequential Sequencing (USH2A, GPR98, DFNB31)

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