# Test Name Gen/Info Material Type Method
1 DiGeorge Syndrome 22q11.2 Blood Contains EDTA Deletion/Duplication (MLPA)
2 Triple A Syndrome (Achalasia-addisonianism-alacrimia Syndrome) AAAS Blood Contains EDTA Whole Genome Sequence Analysis
3 Adrenoleukodystrophyt ABCD1 Blood Contains EDTA Whole Genome Sequence Analysis
4 Adrenomyeloneuropathy, adult ABCD1 Blood Contains EDTA Whole Genome Sequence Analysis
5 Microarray AffyMetrix Optima Array 315K Blood Contains EDTA ARRAY
6 Familial Adenomatous Polyposis APC Blood Contains EDTA Whole Genome Sequence Analysis
7 Adenoma, periampullary, somatic APC Blood Contains EDTA Whole Genome Sequence Analysis
8 Brain tumor-polyposis Syndrome 2 APC Blood Contains EDTA Whole Genome Sequence Analysis
9 Colorectal cancer, somatic APC Blood Contains EDTA Whole Genome Sequence Analysis
10 Desmoid disease, hereditary APC Blood Contains EDTA Whole Genome Sequence Analysis
11 Gardner Syndrome APC Blood Contains EDTA Whole Genome Sequence Analysis
12 Gastric cancer, somatic APC Blood Contains EDTA Whole Genome Sequence Analysis
13 Hepatoblastoma, somatic APC Blood Contains EDTA Whole Genome Sequence Analysis
14 Alzheimer disease-2 APOE Blood Contains EDTA Whole Genome Sequence Analysis
15 Hyperlipoproteinemia, type III APOE Blood Contains EDTA Whole Genome Sequence Analysis
16 Lipoprotein glomerulopathy APOE Blood Contains EDTA Whole Genome Sequence Analysis
17 Sea-blue histiocyte disease APOE Blood Contains EDTA Whole Genome Sequence Analysis
18 Macular degeneration, age-related APOE Blood Contains EDTA Whole Genome Sequence Analysis
19 Koroner arter hastalığı APOE Blood Contains EDTA Whole Genome Sequence Analysis
20 Aril Sülfataz Eksikliği ARSA Blood Contains EDTA Whole Genome Sequence Analysis
21 Metakromatik Lökodistrofi ARSA Blood Contains EDTA Whole Genome Sequence Analysis
22 Metachromatic leukodystrophy ARSA Blood Contains EDTA Whole Genome Sequence Analysis
23 West Syndrome ARX Blood Contains EDTA Whole Genome Sequence Analysis
24 Epileptic encephalopathy, early infantile, 1 ARX Blood Contains EDTA Whole Genome Sequence Analysis
25 Hydranencephaly with abnormal genitalia ARX Blood Contains EDTA Whole Genome Sequence Analysis
26 Lissencephaly, X-linked 2 ARX Blood Contains EDTA Whole Genome Sequence Analysis
27 Mental retardation, X-linked 29 and others ARX Blood Contains EDTA Whole Genome Sequence Analysis
28 Partington Syndrome ARX Blood Contains EDTA Whole Genome Sequence Analysis
29 Proud Syndrome ARX Blood Contains EDTA Whole Genome Sequence Analysis
30 Y Chromosome Microdeletion Analysis (AZF) AZF-A,B,C,D Blood Contains EDTA Fragment
31 Familial Breast and Ovarian Cancer BRCA1 Blood Contains EDTA Whole Genome Sequence Analysis
32 Familial Breast and Ovarian Cancer BRCA1 Blood Contains EDTA Delesion/Duplication (MLPA)
33 Familial Breast and Ovarian Cancer BRCA2 Blood Contains EDTA Whole Genome Sequence Analysis
34 Familial Breast and Ovarian Cancer BRCA2 Blood Contains EDTA Delesion/Duplication (MLPA)
35 Myelofibrosis, somatic CALR-9.EKZON Blood Contains EDTA Whole Genome Sequence Analysis
36 Thrombocythemia, somatic CALR-9.EKZON Blood Contains EDTA Whole Genome Sequence Analysis
37 Ectodermal dysplasia, ectrodactyly, and macular dystrophy CDH3 Blood Contains EDTA Whole Genome Sequence Analysis
38 Hypotrichosis, congenital, with juvenile macular dystrophy CDH3 Blood Contains EDTA Whole Genome Sequence Analysis
39 Epileptic Encephalopathy, Early Infantile, Type 2 CDKL5 Blood Contains EDTA Whole Genome Sequence Analysis
40 Cystic Fibrosis CFTR Blood Contains EDTA Whole Genome Sequence Analysis
41 Cystic Fibrosis CFTR Blood Contains EDTA Delesion/Duplication (MLPA)
42 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency CYP11B1 Blood Contains EDTA Whole Genome Sequence Analysis
43 Aldosteronism, glucocorticoid-remediable CYP11B1 Blood Contains EDTA Whole Genome Sequence Analysis
44 Congenital Adrenal Hyperplasia (17 α-Hydroxylase Deficiency) CYP17A1 Blood Contains EDTA Whole Genome Sequence Analysis
45 Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) CYP21A2 Blood Contains EDTA Whole Genome Sequence Analysis
46 Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) CYP21A2 Blood Contains EDTA Delesion/Duplication (MLPA)
47 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency CYP21A2 Blood Contains EDTA Whole Genome Sequence Analysis
48 Vitamin D-dependent rickets, type I CYP27B1 Blood Contains EDTA Whole Genome Sequence Analysis
49 Smith-Lemli-Opitz Syndrome DHCR7 Blood Contains EDTA Whole Genome Sequence Analysis
50 Duschene Musküler Distrofi DMD Blood Contains EDTA Whole Genome Sequence Analysis
51 Duschene Musküler Distrofi-1 DMD Blood Contains EDTA Delesion/Duplication (MLPA)
52 Duschene Musküler Distrofi-2 DMD Blood Contains EDTA Delesion/Duplication (MLPA)
53 Duschene Musküler Distrofi (Prenatal) DMD Blood Contains EDTA Whole Genome Sequence Analysis
54 Duschene Musküler Distrofi (Prenatal) DMD Blood Contains EDTA Delesion/Duplication (MLPA)
55 Miyotonik Distrofi TİP1 DMPK Blood Contains EDTA Whole Genome Sequence Analysis
56 Miyotonik Distrofi TİP1 DMPK Blood Contains EDTA Fragment Analysis
57 Dyggve-Melchior-Clausen disease DYM Blood Contains EDTA Whole Genome Sequence Analysis
58 Smith-McCort dysplasia DYM Blood Contains EDTA Whole Genome Sequence Analysis
59 Colorectal cancer, hereditary nonpolyposis, type 8 EPCAM Blood Contains EDTA Whole Genome Sequence Analysis
60 Diarrhea 5, with tufting enteropathy, congenital EPCAM Blood Contains EDTA Whole Genome Sequence Analysis
61 Progressive Myoclonic Epilepsy Type 2A EPM2A Blood Contains EDTA Whole Genome Sequence Analysis
62 Glutaric acidemia IIC ETFDH Blood Contains EDTA Whole Genome Sequence Analysis
63 Weyers acrofacial dysostosis EVC Blood Contains EDTA Whole Genome Sequence Analysis
64 Ellis-van Creveld Syndrome EVC Blood Contains EDTA Whole Genome Sequence Analysis
65 Faktör V Leiden mutasyonu Faktör V Leiden Blood Contains EDTA Whole Genome Sequence Analysis
66 Fanconi Anemi (FANCA-1) FANCA Blood Contains EDTA Delesion/Duplication (MLPA)
67 Fanconi Anemi (FANCA-2) FANCA Blood Contains EDTA Delesion/Duplication (MLPA)
68 MARFAN Syndrome Type 1 FBN1 Blood Contains EDTA Whole Genome Sequence Analysis
69 Acromicric Dysplasia FBN1 Blood Contains EDTA Whole Genome Sequence Analysis
70 Hipokondroplasi Syndrome (Prenatal) FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
71 Achondroplasia FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
72 Akanthosis nigricanslı Crouzon Syndrome FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
73 Hipokondroplasi FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
74 Muenke Syndrome FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
75 SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
76 Thanatophoric Dysplasia FGFR3 Blood Contains EDTA Whole Genome Sequence Analysis
77 Fragile X Syndrome FMR1 Blood Contains EDTA Real-time PCR
78 Fragile X Syndrome FMR1 Blood Contains EDTA Fragment Analysis
79 Fragile X Syndrome (PRENATAL) FMR1 Blood Contains EDTA Fragment Analysis
80 Fragile X-associated Primary Ovarian Insufficiency (FXPOI) FMR1 Blood Contains EDTA Fragment Analysis
81 Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) FMR1 Blood Contains EDTA Fragment Analysis
82 FSH Receptor Gene Determination of Polymorphisms FSHR Blood Contains EDTA Whole Genome Sequence Analysis
83 Freidreich Ataxia (FRDA) FXN Blood Contains EDTA Fragment Analysis
84 Freidreich Ataxia (FRDA) FXN Blood Contains EDTA Whole Genome Sequence Analysis
85 Alexander Disease GFAP Blood Contains EDTA Whole Genome Sequence Analysis
86 Alexander Disease GFAP Blood Contains EDTA Whole Genome Sequence Analysis
87 Congenital Deafness (Connexin 26) GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
88 Bart-Pumphrey Syndrome GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
89 Deafness, autosomal dominant 3A GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
90 Deafness, autosomal recessive 1A GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
91 Hystrix-like ichthyosis with deafness GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
92 Keratitis-ichthyosis-deafness Syndrome GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
93 Keratoderma, palmoplantar, with deafness GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
94 Vohwinkel Syndrome GJB2 Blood Contains EDTA Whole Genome Sequence Analysis
95 Ectodermal Dysplasia, Hydrotic GJB6 Blood Contains EDTA Whole Genome Sequence Analysis
96 Deafness, autosomal dominant 3B GJB6 Blood Contains EDTA Whole Genome Sequence Analysis
97 Deafness, autosomal recessive 1B GJB6 Blood Contains EDTA Whole Genome Sequence Analysis
98 Deafness, digenic GJB2/GJB6 GJB6 Blood Contains EDTA Whole Genome Sequence Analysis
99 Ectodermal dysplasia 2, Clouston type GJB6 Blood Contains EDTA Whole Genome Sequence Analysis
100 Simpson-Golabi-Behmel Syndrome, Type 1 GPC3 Blood Contains EDTA Whole Genome Sequence Analysis
101 Simpson-Golabi-Behmel Syndrome, type 1 GPC3 Blood Contains EDTA Whole Genome Sequence Analysis
102 Wilms tumor, somatic GPC3 Blood Contains EDTA Whole Genome Sequence Analysis
103 Alpha Talasemi Deletion Analysis HBA1, HBA2, HBZ Blood Contains EDTA Delesion/Duplication (MLPA)
104 Beta Talasemi HBB Blood Contains EDTA Whole Genome Sequence Analysis
105 Sickle Cell Anemia HBB Blood Contains EDTA Whole Genome Sequence Analysis
106 Delta-beta thalassemia HBB Blood Contains EDTA Whole Genome Sequence Analysis
107 Erythrocytosis 6 HBB Blood Contains EDTA Whole Genome Sequence Analysis
108 Heinz body anemia HBB Blood Contains EDTA Delesion/Duplication (MLPA)
109 Hereditary persistence of fetal hemoglobin HBB Blood Contains EDTA Whole Genome Sequence Analysis
110 Methmoglobinemia, beta type HBB Blood Contains EDTA Whole Genome Sequence Analysis
111 Thalassemia-beta, dominant inclusion-body HBB Blood Contains EDTA Whole Genome Sequence Analysis
112 Malaria, resistance to HBB Blood Contains EDTA Whole Genome Sequence Analysis
113 Hemokromatozis HFE Blood Contains EDTA Whole Genome Sequence Analysis
114 HLA B-27 HLA B-27 Blood Contains EDTA Real-time PCR
115 Behçet Hastalığı HLA-B51 Blood Contains EDTA Real-time PCR
116 Çölyak Hastalığı HLA-DR4, HLA-DQ2, HLA-DQ8 Blood Contains EDTA Real-time PCR
117 Erythrocytosis, somatic JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
118 Leukemia, acute myeloid, somatic JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
119 Myelofibrosis, somatic JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
120 Polycythemia vera, somatic JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
121 Thrombocythemia 3 JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
122 Budd-Chiari Syndrome, somatic JAK2-EKZON_12 Blood Contains EDTA Whole Genome Sequence Analysis
123 Cardiovascular Risk Panel (12 Mutation) Cardiovascular Risk Panel (12 Mutation) Blood Contains EDTA Selected Exon Sequence Analysis
124 Hypercholesterolemia, familial LDLR Blood Contains EDTA Whole Genome Sequence Analysis
125 LDL cholesterol level QTL2 LDLR Blood Contains EDTA Whole Genome Sequence Analysis
126 Hypertriglyceridemia, susceptibility to LIPI Blood Contains EDTA Whole Genome Sequence Analysis
127 Myoglobinuria, acute recurrent, autosomal recessive LPIN1 Blood Contains EDTA Whole Genome Sequence Analysis
128 Rett Syndrome MECP2 Blood Contains EDTA Delesion/Duplication (MLPA)
129 7q31 Deletion AML/MDS Heparinated Blood or Bone Marrow FISH
130 Severe neonatal encephalopathy associated with MECP2 MECP2 Blood Contains EDTA Whole Genome Sequence Analysis
131 PPM-X Syndrome MECP2 Blood Contains EDTA Whole Genome Sequence Analysis
132 FMF (Familial Mediterranean Fever) MEFV Blood Contains EDTA Whole Genome Sequence Analysis
133 FMF (Familial Mediterranean Fever) MEFV(2,3,5,10) Blood Contains EDTA Whole Genome Sequence Analysis
134 Myelofibrosis with myeloid metaplasia, somatic MPL Blood Contains EDTA Whole Genome Sequence Analysis
135 Thrombocythemia 2 MPL Blood Contains EDTA Whole Genome Sequence Analysis
136 Thrombocytopenia, congenital amegakaryocytic MPL Blood Contains EDTA Whole Genome Sequence Analysis
137 Mitochondrial DNA MT-DNA Blood Contains EDTA Delesion/Duplication (MLPA)
138 Methylmalonic aciduria, mut(0) type MUT Blood Contains EDTA Whole Genome Sequence Analysis
139 Neurofibromatosis Type 1-1 NF1 Blood Contains EDTA Delesion/Duplication (MLPA)
140 Neurofibromatosis Type1-2 NF1 Blood Contains EDTA Delesion/Duplication (MLPA)
141 Neurofibromatosis Type 1 NF1 Blood Contains EDTA Whole Genome Sequence Analysis
142 Neurofibromatosis Type 2 NF2 Blood Contains EDTA Delesion/Duplication (MLPA)
143 Neurofibromatosis Type 2 NF2 Blood Contains EDTA Whole Genome Sequence Analysis
144 Gyrate Atrophy of the Choroid and Retina OAT Blood Contains EDTA Whole Genome Sequence Analysis
145 Phenylketonuria Whole Genome PAH Blood Contains EDTA Whole Genome Sequence Analysis
146 Pelizaeus-Merzbacher Disease PLP1 Blood Contains EDTA Whole Genome Sequence Analysis
147 Spastik parapleji Type 2 (Spastik parapleji 2, X'e bağlı) PLP1 Blood Contains EDTA Whole Genome Sequence Analysis
148 Charcot Marie Tooth Type 1A PMP22 Blood Contains EDTA Whole Genome Sequence Analysis
149 Charcot Marie Tooth Type 1A PMP22 Blood Contains EDTA Delesion/Duplication (MLPA)
150 Neuropathy, Inflammatory Demyelinating PMP22 Blood Contains EDTA Whole Genome Sequence Analysis
151 Charcot-Marie-Tooth disease, Type 1E PMP22 Blood Contains EDTA Whole Genome Sequence Analysis
152 Dejerine-Sottas Disease PMP22 Blood Contains EDTA Whole Genome Sequence Analysis
153 Neuropathy, recurrent, with pressure palsies ABCD1 Blood Contains EDTA Whole Genome Sequence Analysis
154 Roussy-Levy Syndrome ABCD1 Blood Contains EDTA Whole Genome Sequence Analysis
155 Pituitary hormone deficiency, combined, 2 PROP1 Blood Contains EDTA Whole Genome Sequence Analysis
156 Noonan Syndrome PTPN11 Blood Contains EDTA Whole Genome Sequence Analysis
157 LEOPARD Syndrome 1 PTPN11 Blood Contains EDTA Whole Genome Sequence Analysis
158 Leukemia, juvenile myelomonocytic, somatic PTPN11 Blood Contains EDTA Whole Genome Sequence Analysis
159 Metachondromatosis PTPN11 Blood Contains EDTA Whole Genome Sequence Analysis
160 Dravet Syndrome SCN1A Blood Contains EDTA Whole Genome Sequence Analysis
161 Pseudohypoaldosteronism Type 1 (PHA1) (SCNN1A) SCNN1A Blood Contains EDTA Whole Genome Sequence Analysis
162 Liddle Syndrome 3 SCNN1A Blood Contains EDTA Whole Genome Sequence Analysis
163 Bronchiectasis with or without elevated sweat chloride 2 SCNN1A Blood Contains EDTA Whole Genome Sequence Analysis
164 pseudohypoaldosteronism Type 1 (PHA1) (SCNN1B) SCNN1B Blood Contains EDTA Whole Genome Sequence Analysis
165 Bronchiectasis with or without elevated sweat chloride 1 SCNN1B Blood Contains EDTA Whole Genome Sequence Analysis
166 Liddle Syndrome 1 SCNN1B Blood Contains EDTA Whole Genome Sequence Analysis
167 Emphysema due to AAT deficiency SERPINA1 Blood Contains EDTA Whole Genome Sequence Analysis
168 Emphysema-cirrhosis, due to AAT deficiency SERPINA1 Blood Contains EDTA Whole Genome Sequence Analysis
169 Hemorrhagic diathesis due to antithrombin Pittsburgh SERPINA1 Blood Contains EDTA Whole Genome Sequence Analysis
170 Pulmonary disease, chronic obstructive, susceptibility to SERPINA1 Blood Contains EDTA Whole Genome Sequence Analysis
171 GLUT1 Deficiency Syndrome SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
172 Dystonia 9 SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
173 GLUT1 deficiency Syndrome 1, infantile onset, severe SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
174 GLUT1 deficiency Syndrome 2, childhood onset SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
175 Stomatin-deficient cryohydrocytosis with neurologic defects SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
176 Epilepsy, idiopathic generalized, susceptibility to, 12 SLC2A1 Blood Contains EDTA Whole Genome Sequence Analysis
177 Diarrhea 8, secretory sodium, congenital SLC9A3 Blood Contains EDTA Whole Genome Sequence Analysis
178 SMA SpinalMusküler Atrofi Taşıyıcılık Del/Dup SMN1(Ekzon7-8) / SMN2 (Ekzon7-8) Blood Contains EDTA Delesion/Duplication (MLPA)
179 Niemann Pick Type A ve Type B SMPD1 Blood Contains EDTA Whole Genome Sequence Analysis
180 Hereditary Pancreatitis SPINK1 Blood Contains EDTA Whole Genome Sequence Analysis
181 Tropical calcific pancreatitis SPINK1 Blood Contains EDTA Whole Genome Sequence Analysis
182 Fibrocalculous pancreatic diabetes, susceptibility to SPINK1 Blood Contains EDTA Whole Genome Sequence Analysis
183 5 Alpha Reductase Deficiency SRD5A2 Blood Contains EDTA Whole Genome Sequence Analysis
184 Pseudovaginal perineoscrotal hypospadias SRD5A2 Blood Contains EDTA Whole Genome Sequence Analysis
185 Epileptic encephalopathy, early infantile, 4 STXBP1 Blood Contains EDTA Whole Genome Sequence Analysis
186 Albinism, oculocutaneous, type IA TYR Blood Contains EDTA Whole Genome Sequence Analysis
187 Albinism, oculocutaneous, type IB TYR Blood Contains EDTA Whole Genome Sequence Analysis
188 Waardenburg Syndrome/albinism, digenic TYR Blood Contains EDTA Whole Genome Sequence Analysis
189 Skin/hair/eye pigmentation 3, blue/green eyes TYR Blood Contains EDTA Whole Genome Sequence Analysis
190 Skin/hair/eye pigmentation 3, light/dark/freckling skin TYR Blood Contains EDTA Whole Genome Sequence Analysis
191 Melanoma, cutaneous malignant, susceptibility to, 8 TYR Blood Contains EDTA Whole Genome Sequence Analysis
192 Angelman Syndrome UBE3A Blood Contains EDTA Whole Genome Sequence Analysis
193 Gilbert Syndrome UGT1A1 Blood Contains EDTA Whole Genome Sequence Analysis
194 Crigler-Najjar Syndrome (Type 1(CN1) - Tpye 2 (CN2)) UGT1A1 Blood Contains EDTA Whole Genome Sequence Analysis
195 Hyperbilirubinemia, familial transient neonatal UGT1A1 Blood Contains EDTA Whole Genome Sequence Analysis
196 Warfarin resistance due to UGT1A1 UGT1A1 Blood Contains EDTA Whole Genome Sequence Analysis
197 Prader Willi Syndrome NDN/SRNPN Blood Contains EDTA Delesion/Duplication (MLPA)
198 Thrombophilia Panel (6 Mutation) -- Blood Contains EDTA Selected Exon Sequence Analysis
199 Thrombophilia Panel (6 Mutation) -- Blood Contains EDTA Fragment
200 Ichthyosis vulgaris FLG Blood Contains EDTA Whole Genome Sequence Analysis
201 Dermatitis, atopic, susceptibility to, 2 FLG Blood Contains EDTA Whole Genome Sequence Analysis
202 Immunodeficiency 23 PGM3 Blood Contains EDTA Whole Genome Sequence Analysis
203 Propionicacidemia PCCA Blood Contains EDTA Whole Genome Sequence Analysis
204 Biotinidase deficiency BTD Blood Contains EDTA Whole Genome Sequence Analysis
205 Diabetes Panel 1 (MODY) HNF1A, GCK Blood Contains EDTA PANEL
206 Diabetes Panel 2 (MODY) HNF1B, HNF4A Blood Contains EDTA PANEL
207 Diabetes Panel 3 (MODY) PDX1, NEUROD1, KLF11, CEL Blood Contains EDTA PANEL
208 Diabetes Panel 4 (MODY) PAX4, INS, BLK Blood Contains EDTA PANEL
209 Epilepsy Panel 1 SCN1A, SCN1B, GABRG2 Blood Contains EDTA PANEL
210 Epilepsy Panel 2 SCN2A, SCN9A Blood Contains EDTA PANEL
211 Infertility Paneli (Male) AR, CATSPER1, FSHR, LHCGR Blood Contains EDTA PANEL
212 Infertility Panel (Female) FSHB, FSHR, LHB, LHCGR Blood Contains EDTA PANEL
213 Nephrotic Syndrome Panel 1 NPSH1, NPSH2,WT1 Blood Contains EDTA PANEL
214 Nephrotic Syndrome Panel 2 ARHGDIA,DGKE,LAMB2,PLCE1 Blood Contains EDTA PANEL
215 Obesity Panel 1 LEP,LEPR,POMC,MC4R Blood Contains EDTA PANEL
216 Obesity Panel 2 KSR2,SH2B1,SIM1 Blood Contains EDTA PANEL
217 Otizm Panel MECP2, CDKL5, NLGN3, NLGN4X, PDE8B, RPL10, EN2 Blood Contains EDTA PANEL
218 Periodic Fever Panel 1 TNFRSF1A,NLRP3,MVK Blood Contains EDTA PANEL
219 Periodic Fever Panel 2 ELANE,LPIN2,PSTPIP1 Blood Contains EDTA PANEL
220 Hyperinsulinemia Panel GLND1, ABCC8, INSR, UCP2, HNF4A, KCNJ11, PDX1, HADH Blood Contains EDTA PANEL
221 CAH CYP21A1P, CYP21A2 Blood Contains EDTA PANEL
222 JAK 2 JAK 2 Blood Contains EDTA Real-time PCR
223 QF - PCR (13, 18, 21, X, Y) Fast Aneuploidy ABCD1 Amniotic Fluid / CVS Fragment
224 Microarray (prenetal) AffyMetrix Optima Array 315K Amniotic Fluid / Cord Blood ARRAY
225 Hypochondroplasia Syndrome (Prenatal) FGFR3 Amniotic Fluid / CVS / Heparined ve EDTA Contained (Both) Cord Blood and EDTA Contained Blood form Mother Whole Genome Sequence Analysis
226 Chromosome Analysis from Amniotic Fluid -- Amniotic Fluid Chromosome Analysis
227 Chromosome Analysis from Culture of Skin Biopsy -- Skin Biopsy Chromosome Analysis
228 Chromosome Analysis from Abort Material -- Abort Material Chromosome Analysis
229 Chromosome Analysis from Fetal Blood -- Cord Blood (Heparined Injector) Chromosome Analysis
230 Chromosome Analysis from Bone Marrow -- Heparined Bone Marrow Chromosome Analysis
231 Chromosome Analysis from Chorionic Villus Sample (CVS) -- CVS Chromosome Analysis
232 Investigations of Chromosomal Fracture Syndromes -- Heparinated Blood Chromosome Analysis
233 Chromosome Analysis from Peripheral Blood -- Heparinated Blood Chromosome Analysis
234 XY Chromosome (FISH) -- Heparinated Blood FISH
235 Yp11.3 -- Heparinated Blood FISH
236 t(4;14) (q16;q32) IGH/FGFR3, WHSC1 Heparinated Blood or Bone Marrow FISH
237 t(8;14)(q24;q32) IGH/MYC Heparinated Blood or Bone Marrow FISH
238 t(9;22) (q34;q11.2 ) BCR/ ABL Heparinated Blood or Bone Marrow FISH
239 t(11;14) (q13;q32) IGH/CCND1 Heparinated Blood or Bone Marrow FISH
240 t(12;21) (p13;q22) ETV6/RUNX1 Heparinated Blood or Bone Marrow FISH
241 t(15;17) (q22;q21) PML/RARA Heparinated Blood or Bone Marrow FISH
242 17 p13,1 Delesyonu p53 Heparinated Blood or Bone Marrow FISH
243 inv(16)(p13;q22)/t(16;16)(p13;q22)-CBFB geni CBFB/MYH11 Heparinated Blood or Bone Marrow FISH
244 t(8;21)(q22;q22) RUNX1/RUNX1T1 Heparinated Blood or Bone Marrow FISH
245 Microarray (prenetal) AffyMetrix Optima Array 750K Amniotic Fluid / Cord Blood ARRAY
246 Microarray AffyMetrix Optima Array 750K Blood Contains EDTA ARRAY
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952

GENETİC
TESTS

10

DIFFERENT
CITY

18

DIFFERENT
HOSPİTAL

36

WORKING
TEAM